Human methylome studies SRP075292 Track Settings
 
Cumulative Impact of Polychlorinated Biphenyl and Large Chromosomal Duplications on DNA Methylation, Chromatin, and Expression of Autism Candidate Genes. [Brain, Neuroblastoma Cell Line]

Track collection: Human methylome studies

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SRX1770467 
SRX1770468 
SRX1770469 
SRX1770471 
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SRX1770530 
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 SRX1770467  HMR  Brain / SRX1770467 (HMR)   Data format 
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 SRX1770467  CpG methylation  Brain / SRX1770467 (CpG methylation)   Data format 
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 SRX1770468  HMR  Brain / SRX1770468 (HMR)   Data format 
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 SRX1770468  CpG methylation  Brain / SRX1770468 (CpG methylation)   Data format 
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 SRX1770469  HMR  Brain / SRX1770469 (HMR)   Data format 
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 SRX1770469  CpG methylation  Brain / SRX1770469 (CpG methylation)   Data format 
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 SRX1770471  HMR  Brain / SRX1770471 (HMR)   Data format 
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 SRX1770471  CpG methylation  Brain / SRX1770471 (CpG methylation)   Data format 
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 SRX1770472  HMR  Brain / SRX1770472 (HMR)   Data format 
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 SRX1770472  CpG methylation  Brain / SRX1770472 (CpG methylation)   Data format 
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 SRX1770473  HMR  Brain / SRX1770473 (HMR)   Data format 
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 SRX1770473  CpG methylation  Brain / SRX1770473 (CpG methylation)   Data format 
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 SRX1770474  HMR  Brain / SRX1770474 (HMR)   Data format 
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 SRX1770474  CpG methylation  Brain / SRX1770474 (CpG methylation)   Data format 
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 SRX1770475  HMR  Brain / SRX1770475 (HMR)   Data format 
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 SRX1770475  CpG methylation  Brain / SRX1770475 (CpG methylation)   Data format 
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 SRX1770476  HMR  Brain / SRX1770476 (HMR)   Data format 
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 SRX1770476  CpG methylation  Brain / SRX1770476 (CpG methylation)   Data format 
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 SRX1770477  HMR  Brain / SRX1770477 (HMR)   Data format 
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 SRX1770477  CpG methylation  Brain / SRX1770477 (CpG methylation)   Data format 
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 SRX1770478  HMR  Brain / SRX1770478 (HMR)   Data format 
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 SRX1770478  CpG methylation  Brain / SRX1770478 (CpG methylation)   Data format 
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 SRX1770479  HMR  Brain / SRX1770479 (HMR)   Data format 
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 SRX1770479  CpG methylation  Brain / SRX1770479 (CpG methylation)   Data format 
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 SRX1770480  HMR  Brain / SRX1770480 (HMR)   Data format 
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 SRX1770480  CpG methylation  Brain / SRX1770480 (CpG methylation)   Data format 
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 SRX1770481  HMR  Brain / SRX1770481 (HMR)   Data format 
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 SRX1770481  CpG methylation  Brain / SRX1770481 (CpG methylation)   Data format 
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 SRX1770482  HMR  Brain / SRX1770482 (HMR)   Data format 
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 SRX1770482  CpG methylation  Brain / SRX1770482 (CpG methylation)   Data format 
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 SRX1770483  HMR  Brain / SRX1770483 (HMR)   Data format 
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 SRX1770483  CpG methylation  Brain / SRX1770483 (CpG methylation)   Data format 
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 SRX1770484  HMR  Brain / SRX1770484 (HMR)   Data format 
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 SRX1770484  CpG methylation  Brain / SRX1770484 (CpG methylation)   Data format 
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 SRX1770485  HMR  Brain / SRX1770485 (HMR)   Data format 
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 SRX1770485  CpG methylation  Brain / SRX1770485 (CpG methylation)   Data format 
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 SRX1770486  HMR  Brain / SRX1770486 (HMR)   Data format 
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 SRX1770486  CpG methylation  Brain / SRX1770486 (CpG methylation)   Data format 
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 SRX1770487  HMR  Brain / SRX1770487 (HMR)   Data format 
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 SRX1770487  CpG methylation  Brain / SRX1770487 (CpG methylation)   Data format 
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 SRX1770488  HMR  Brain / SRX1770488 (HMR)   Data format 
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 SRX1770488  CpG methylation  Brain / SRX1770488 (CpG methylation)   Data format 
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 SRX1770489  HMR  Brain / SRX1770489 (HMR)   Data format 
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 SRX1770489  CpG methylation  Brain / SRX1770489 (CpG methylation)   Data format 
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 SRX1770490  HMR  Brain / SRX1770490 (HMR)   Data format 
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 SRX1770490  CpG methylation  Brain / SRX1770490 (CpG methylation)   Data format 
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 SRX1770491  HMR  Brain / SRX1770491 (HMR)   Data format 
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 SRX1770491  CpG methylation  Brain / SRX1770491 (CpG methylation)   Data format 
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 SRX1770492  HMR  Brain / SRX1770492 (HMR)   Data format 
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 SRX1770492  CpG methylation  Brain / SRX1770492 (CpG methylation)   Data format 
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 SRX1770493  HMR  Brain / SRX1770493 (HMR)   Data format 
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 SRX1770493  CpG methylation  Brain / SRX1770493 (CpG methylation)   Data format 
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 SRX1770494  HMR  Brain / SRX1770494 (HMR)   Data format 
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 SRX1770494  CpG methylation  Brain / SRX1770494 (CpG methylation)   Data format 
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 SRX1770495  HMR  Brain / SRX1770495 (HMR)   Data format 
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 SRX1770495  CpG methylation  Brain / SRX1770495 (CpG methylation)   Data format 
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 SRX1770496  HMR  Brain / SRX1770496 (HMR)   Data format 
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 SRX1770496  CpG methylation  Brain / SRX1770496 (CpG methylation)   Data format 
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 SRX1770497  HMR  Brain / SRX1770497 (HMR)   Data format 
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 SRX1770497  CpG methylation  Brain / SRX1770497 (CpG methylation)   Data format 
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 SRX1770499  HMR  Brain / SRX1770499 (HMR)   Data format 
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 SRX1770499  CpG methylation  Brain / SRX1770499 (CpG methylation)   Data format 
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 SRX1770500  HMR  Brain / SRX1770500 (HMR)   Data format 
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 SRX1770500  CpG methylation  Brain / SRX1770500 (CpG methylation)   Data format 
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 SRX1770501  HMR  Brain / SRX1770501 (HMR)   Data format 
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 SRX1770501  CpG methylation  Brain / SRX1770501 (CpG methylation)   Data format 
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 SRX1770502  HMR  Brain / SRX1770502 (HMR)   Data format 
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 SRX1770502  CpG methylation  Brain / SRX1770502 (CpG methylation)   Data format 
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 SRX1770503  HMR  Brain / SRX1770503 (HMR)   Data format 
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 SRX1770503  CpG methylation  Brain / SRX1770503 (CpG methylation)   Data format 
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 SRX1770504  HMR  Brain / SRX1770504 (HMR)   Data format 
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 SRX1770504  CpG methylation  Brain / SRX1770504 (CpG methylation)   Data format 
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 SRX1770505  HMR  Brain / SRX1770505 (HMR)   Data format 
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 SRX1770505  CpG methylation  Brain / SRX1770505 (CpG methylation)   Data format 
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 SRX1770506  HMR  Brain / SRX1770506 (HMR)   Data format 
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 SRX1770506  CpG methylation  Brain / SRX1770506 (CpG methylation)   Data format 
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 SRX1770507  HMR  Brain / SRX1770507 (HMR)   Data format 
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 SRX1770507  CpG methylation  Brain / SRX1770507 (CpG methylation)   Data format 
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 SRX1770508  CpG methylation  Neuroblastoma Cell Line / SRX1770508 (CpG methylation)   Data format 
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 SRX1770509  CpG methylation  Neuroblastoma Cell Line / SRX1770509 (CpG methylation)   Data format 
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 SRX1770510  CpG methylation  Neuroblastoma Cell Line / SRX1770510 (CpG methylation)   Data format 
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 SRX1770511  CpG methylation  Neuroblastoma Cell Line / SRX1770511 (CpG methylation)   Data format 
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 SRX1770512  CpG methylation  Neuroblastoma Cell Line / SRX1770512 (CpG methylation)   Data format 
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 SRX1770513  CpG methylation  Neuroblastoma Cell Line / SRX1770513 (CpG methylation)   Data format 
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 SRX1770514  CpG methylation  GSM2157013: Culture_SH15M_rep1; Homo sapiens; Bisulfite-Seq (CpG methylation)   Data format 
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 SRX1770515  CpG methylation  GSM2157014: Culture_SH15M_rep2; Homo sapiens; Bisulfite-Seq (CpG methylation)   Data format 
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 SRX1770516  CpG methylation  GSM2157015: Culture_SH15M_rep3; Homo sapiens; Bisulfite-Seq (CpG methylation)   Data format 
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 SRX1770517  CpG methylation  GSM2157016: Culture_SH15MPCB_rep1; Homo sapiens; Bisulfite-Seq (CpG methylation)   Data format 
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 SRX1770518  CpG methylation  GSM2157017: Culture_SH15MPCB_rep2; Homo sapiens; Bisulfite-Seq (CpG methylation)   Data format 
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 SRX1770519  CpG methylation  GSM2157018: Culture_SH15MPCB_rep3; Homo sapiens; Bisulfite-Seq (CpG methylation)   Data format 
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 SRX1770520  CpG methylation  Neuroblastoma Cell Line / SRX1770520 (CpG methylation)   Data format 
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 SRX1770521  CpG methylation  Neuroblastoma Cell Line / SRX1770521 (CpG methylation)   Data format 
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 SRX1770522  CpG methylation  Neuroblastoma Cell Line / SRX1770522 (CpG methylation)   Data format 
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 SRX1770523  CpG methylation  Neuroblastoma Cell Line / SRX1770523 (CpG methylation)   Data format 
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 SRX1770524  CpG methylation  Neuroblastoma Cell Line / SRX1770524 (CpG methylation)   Data format 
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 SRX1770525  CpG methylation  GSM2157024: Culture_SH15Mdup22_rep1; Homo sapiens; Bisulfite-Seq (CpG methylation)   Data format 
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 SRX1770526  CpG methylation  GSM2157025: Culture_SH15Mdup22_rep2; Homo sapiens; Bisulfite-Seq (CpG methylation)   Data format 
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 SRX1770527  CpG methylation  GSM2157026: Culture_SH15Mdup22_rep3; Homo sapiens; Bisulfite-Seq (CpG methylation)   Data format 
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 SRX1770528  CpG methylation  GSM2157027: Culture_SH15Mdup22PCB_rep1; Homo sapiens; Bisulfite-Seq (CpG methylation)   Data format 
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 SRX1770529  CpG methylation  GSM2157028: Culture_SH15Mdup22PCB_rep2; Homo sapiens; Bisulfite-Seq (CpG methylation)   Data format 
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 SRX1770530  CpG methylation  GSM2157029: Culture_SH15Mdup22PCB_rep3; Homo sapiens; Bisulfite-Seq (CpG methylation)   Data format 
    
Assembly: Human Dec. 2013 (GRCh38/hg38)

Study title: Cumulative Impact of Polychlorinated Biphenyl and Large Chromosomal Duplications on DNA Methylation, Chromatin, and Expression of Autism Candidate Genes.
SRA: SRP075292
GEO: GSE81541
Pubmed: 27974215

Experiment Label Methylation Coverage HMRs HMR size AMRs AMR size PMDs PMD size Conversion Title
SRX1770467 Brain 0.732 1.8 31604 1650.9 4 1031.2 788 88163.3 0.971 GSM2156966: Brain_Control_rep1; Homo sapiens; Bisulfite-Seq
SRX1770468 Brain 0.743 1.8 29159 1624.4 14 1029.1 636 90167.9 0.980 GSM2156967: Brain_Control_rep2; Homo sapiens; Bisulfite-Seq
SRX1770469 Brain 0.753 2.1 32614 1643.6 4 1236.0 744 95981.8 0.979 GSM2156968: Brain_Control_rep3; Homo sapiens; Bisulfite-Seq
SRX1770471 Brain 0.739 3.2 35526 1448.2 50 1039.9 983 58370.6 0.977 GSM2156970: Brain_Control_rep5; Homo sapiens; Bisulfite-Seq
SRX1770472 Brain 0.744 2.0 32085 1618.5 9 1111.1 675 102746.9 0.976 GSM2156971: Brain_Control_rep6; Homo sapiens; Bisulfite-Seq
SRX1770473 Brain 0.764 4.9 33885 1345.6 146 1035.3 1151 61152.2 0.983 GSM2156972: Brain_Control_rep7; Homo sapiens; Bisulfite-Seq
SRX1770474 Brain 0.768 5.0 48171 1307.9 46 1394.7 1271 66871.5 0.992 GSM2156973: Brain_Control_rep8; Homo sapiens; Bisulfite-Seq
SRX1770475 Brain 0.770 5.2 34125 1307.2 265 1040.0 1198 40275.9 0.981 GSM2156974: Brain_Control_rep9; Homo sapiens; Bisulfite-Seq
SRX1770476 Brain 0.749 3.1 31563 1516.7 11 1120.5 1012 47454.2 0.980 GSM2156975: Brain_Control_rep10; Homo sapiens; Bisulfite-Seq
SRX1770477 Brain 0.734 2.9 32000 1542.5 12 944.0 734 45354.3 0.979 GSM2156976: Brain_Control_rep11; Homo sapiens; Bisulfite-Seq
SRX1770478 Brain 0.704 3.4 29996 1441.2 207 986.6 527 59930.3 0.971 GSM2156977: Brain_Dup15_rep1; Homo sapiens; Bisulfite-Seq
SRX1770479 Brain 0.738 3.5 29918 1461.6 56 1039.6 757 65802.1 0.973 GSM2156978: Brain_Dup15_rep2; Homo sapiens; Bisulfite-Seq
SRX1770480 Brain 0.681 2.6 32197 1544.9 29 1045.1 578 65120.3 0.977 GSM2156979: Brain_Dup15_rep3; Homo sapiens; Bisulfite-Seq
SRX1770481 Brain 0.734 3.7 31648 1408.6 188 1006.5 775 61932.7 0.969 GSM2156980: Brain_Dup15_rep4; Homo sapiens; Bisulfite-Seq
SRX1770482 Brain 0.693 2.4 31713 1585.2 16 965.8 589 83420.1 0.974 GSM2156981: Brain_Dup15_rep5; Homo sapiens; Bisulfite-Seq
SRX1770483 Brain 0.684 2.4 32691 1604.2 12 931.9 782 61043.2 0.973 GSM2156982: Brain_Dup15_rep6; Homo sapiens; Bisulfite-Seq
SRX1770484 Brain 0.734 2.6 31757 1533.0 11 1104.0 815 54002.4 0.977 GSM2156983: Brain_Dup15_rep7; Homo sapiens; Bisulfite-Seq
SRX1770485 Brain 0.747 3.4 32893 1473.4 20 1015.1 1241 59713.8 0.982 GSM2156984: Brain_Dup15_rep8; Homo sapiens; Bisulfite-Seq
SRX1770486 Brain 0.717 3.0 30953 1509.7 33 995.8 765 54747.1 0.977 GSM2156985: Brain_Dup15_rep9; Homo sapiens; Bisulfite-Seq
SRX1770487 Brain 0.777 5.3 34200 1358.1 183 1049.2 1401 39967.8 0.966 GSM2156986: Brain_PWS_rep1; Homo sapiens; Bisulfite-Seq
SRX1770488 Brain 0.750 4.9 37048 1327.0 132 1045.1 1091 52236.8 0.983 GSM2156987: Brain_PWS_rep2; Homo sapiens; Bisulfite-Seq
SRX1770489 Brain 0.718 3.5 54167 1606.7 70 1006.7 1963 128667.0 0.986 GSM2156988: Brain_PWS_rep3; Homo sapiens; Bisulfite-Seq
SRX1770490 Brain 0.742 4.4 57046 1411.1 50 1247.8 1779 85667.9 0.987 GSM2156989: Brain_PWS_rep4; Homo sapiens; Bisulfite-Seq
SRX1770491 Brain 0.769 5.2 42441 1313.2 153 1085.0 1455 59239.3 0.986 GSM2156990: Brain_PWS_rep5; Homo sapiens; Bisulfite-Seq
SRX1770492 Brain 0.756 3.7 33778 1370.6 39 1192.7 958 51875.7 0.985 GSM2156991: Brain_Angelman_rep1; Homo sapiens; Bisulfite-Seq
SRX1770493 Brain 0.762 3.4 31988 1443.4 21 969.7 954 54145.8 0.985 GSM2156992: Brain_Angelman_rep2; Homo sapiens; Bisulfite-Seq
SRX1770494 Brain 0.755 4.0 34385 1375.2 83 993.4 1177 51447.3 0.975 GSM2156993: Brain_Angelman_rep3; Homo sapiens; Bisulfite-Seq
SRX1770495 Brain 0.740 3.9 44274 1338.9 55 1122.5 861 76079.1 0.991 GSM2156994: Brain_Downs_rep1; Homo sapiens; Bisulfite-Seq
SRX1770496 Brain 0.777 4.2 32710 1354.0 68 984.8 1246 45175.2 0.979 GSM2156995: Brain_Downs_rep2; Homo sapiens; Bisulfite-Seq
SRX1770497 Brain 0.777 4.7 46232 1253.0 53 1310.9 1193 61999.1 0.990 GSM2156996: Brain_Downs_rep3; Homo sapiens; Bisulfite-Seq
SRX1770499 Brain 0.735 3.8 34790 1378.6 55 1145.4 1147 43315.8 0.980 GSM2156998: Brain_IdioAut_rep1; Homo sapiens; Bisulfite-Seq
SRX1770500 Brain 0.772 3.4 34346 1415.4 29 1027.8 1117 54680.1 0.978 GSM2156999: Brain_IdioAut_rep2; Homo sapiens; Bisulfite-Seq
SRX1770501 Brain 0.739 3.5 37166 1452.3 36 1165.4 1067 62717.5 0.978 GSM2157000: Brain_IdioAut_rep3; Homo sapiens; Bisulfite-Seq
SRX1770502 Brain 0.767 4.3 44594 1335.6 54 1149.8 1042 72843.2 0.991 GSM2157001: Brain_IdioAut_rep4; Homo sapiens; Bisulfite-Seq
SRX1770503 Brain 0.764 4.2 32302 1382.4 85 1046.1 1083 51734.4 0.979 GSM2157002: Brain_IdioAut_rep5; Homo sapiens; Bisulfite-Seq
SRX1770504 Brain 0.766 4.1 34355 1371.6 61 1167.2 883 60825.3 0.980 GSM2157003: Brain_IdioAut_rep6; Homo sapiens; Bisulfite-Seq
SRX1770505 Brain 0.730 3.4 32397 1479.2 24 995.8 1007 42295.4 0.976 GSM2157004: BraindfBA_Control_rep10; Homo sapiens; Bisulfite-Seq
SRX1770506 Brain 0.746 3.2 33648 1516.7 7 980.7 1086 48435.9 0.986 GSM2157005: BraindfBA_Control_rep11; Homo sapiens; Bisulfite-Seq
SRX1770507 Brain 0.747 3.0 31412 1510.9 11 1097.4 976 47086.5 0.977 GSM2157006: BraindfBA_Dup15_rep9; Homo sapiens; Bisulfite-Seq
SRX1770508 Neuroblastoma Cell Line 0.671 3.0 58244 8410.2 81 947.8 1085 736664.4 0.997 GSM2157007: Culture_SH_rep1; Homo sapiens; Bisulfite-Seq
SRX1770509 Neuroblastoma Cell Line 0.691 5.4 65001 8662.5 441 1116.4 1249 640027.2 0.997 GSM2157008: Culture_SH_rep2; Homo sapiens; Bisulfite-Seq
SRX1770510 Neuroblastoma Cell Line 0.690 4.5 62909 8709.7 219 1039.9 1272 630008.3 0.997 GSM2157009: Culture_SH_rep3; Homo sapiens; Bisulfite-Seq
SRX1770511 Neuroblastoma Cell Line 0.659 3.5 59610 8785.4 114 1009.4 1183 672237.2 0.997 GSM2157010: Culture_SHPCB_rep1; Homo sapiens; Bisulfite-Seq
SRX1770512 Neuroblastoma Cell Line 0.686 6.0 67145 8399.5 625 1109.9 1330 596621.8 0.997 GSM2157011: Culture_SHPCB_rep2; Homo sapiens; Bisulfite-Seq
SRX1770513 Neuroblastoma Cell Line 0.678 4.8 64697 8099.2 464 1093.5 1164 686461.4 0.996 GSM2157012: Culture_SHPCB_rep3; Homo sapiens; Bisulfite-Seq
SRX1770514 None 0.650 3.0 57437 9224.0 94 1014.6 1167 714227.9 0.997 GSM2157013: Culture_SH15M_rep1; Homo sapiens; Bisulfite-Seq
SRX1770515 None 0.669 4.6 64163 8950.1 434 1012.7 1284 648580.1 0.997 GSM2157014: Culture_SH15M_rep2; Homo sapiens; Bisulfite-Seq
SRX1770516 None 0.661 4.7 63797 8862.6 474 1021.6 1284 643588.2 0.997 GSM2157015: Culture_SH15M_rep3; Homo sapiens; Bisulfite-Seq
SRX1770517 None 0.650 3.4 59383 9327.6 134 984.8 1226 678584.1 0.996 GSM2157016: Culture_SH15MPCB_rep1; Homo sapiens; Bisulfite-Seq
SRX1770518 None 0.673 5.2 67098 8747.6 646 1107.0 1303 641858.2 0.997 GSM2157017: Culture_SH15MPCB_rep2; Homo sapiens; Bisulfite-Seq
SRX1770519 None 0.671 4.1 64554 8487.4 428 1039.5 1227 679400.4 0.997 GSM2157018: Culture_SH15MPCB_rep3; Homo sapiens; Bisulfite-Seq
SRX1770520 Neuroblastoma Cell Line 0.697 3.7 60803 9465.8 102 1015.1 1256 637425.4 0.996 GSM2157019: Culture_SHclone_rep1; Homo sapiens; Bisulfite-Seq
SRX1770521 Neuroblastoma Cell Line 0.683 5.6 66540 8353.8 882 1063.6 1281 624701.6 0.996 GSM2157020: Culture_SHclone_rep2; Homo sapiens; Bisulfite-Seq
SRX1770522 Neuroblastoma Cell Line 0.690 4.8 63534 9551.3 251 1003.1 1426 580453.5 0.996 GSM2157021: Culture_SHPCBclone_rep1; Homo sapiens; Bisulfite-Seq
SRX1770523 Neuroblastoma Cell Line 0.663 4.6 63810 7997.0 497 1069.7 1286 646029.8 0.996 GSM2157022: Culture_SHPCBclone_rep2; Homo sapiens; Bisulfite-Seq
SRX1770524 Neuroblastoma Cell Line 0.674 5.1 64308 8832.7 520 1037.2 1310 634128.3 0.995 GSM2157023: Culture_SHPCBclone_rep3; Homo sapiens; Bisulfite-Seq
SRX1770525 None 0.645 4.8 61150 11429.0 328 1028.2 1641 620357.7 0.996 GSM2157024: Culture_SH15Mdup22_rep1; Homo sapiens; Bisulfite-Seq
SRX1770526 None 0.648 5.4 62620 10077.0 828 1051.6 1491 676283.9 0.996 GSM2157025: Culture_SH15Mdup22_rep2; Homo sapiens; Bisulfite-Seq
SRX1770527 None 0.664 5.0 63266 10074.5 541 1006.2 1526 659104.6 0.996 GSM2157026: Culture_SH15Mdup22_rep3; Homo sapiens; Bisulfite-Seq
SRX1770528 None 0.655 4.8 62562 11033.1 326 1027.0 1618 620158.2 0.995 GSM2157027: Culture_SH15Mdup22PCB_rep1; Homo sapiens; Bisulfite-Seq
SRX1770529 None 0.645 5.4 64519 9831.8 666 1040.5 1528 664245.3 0.996 GSM2157028: Culture_SH15Mdup22PCB_rep2; Homo sapiens; Bisulfite-Seq
SRX1770530 None 0.645 4.9 61842 10515.9 516 1183.5 1540 662359.4 0.996 GSM2157029: Culture_SH15Mdup22PCB_rep3; Homo sapiens; Bisulfite-Seq

Methods

All analysis was done using a bisulfite sequnecing data analysis pipeline DNMTools developed in the Smith lab at USC.

Mapping reads from bisulfite sequencing: Bisulfite treated reads are mapped to the genomes with the abismal program. Input reads are filtered by their quality, and adapter sequences in the 3' end of reads are trimmed. This is done with cutadapt. Uniquely mapped reads with mismatches/indels below given threshold are retained. For pair-end reads, if the two mates overlap, the overlapping part of the mate with lower quality is discarded. After mapping, we use the format command in dnmtools to merge mates for paired-end reads. We use the dnmtools uniq command to randomly select one from multiple reads mapped exactly to the same location. Without random oligos as UMIs, this is our best indication of PCR duplicates.

Estimating methylation levels: After reads are mapped and filtered, the dnmtools counts command is used to obtain read coverage and estimate methylation levels at individual cytosine sites. We count the number of methylated reads (those containing a C) and the number of unmethylated reads (those containing a T) at each nucleotide in a mapped read that corresponds to a cytosine in the reference genome. The methylation level of that cytosine is estimated as the ratio of methylated to total reads covering that cytosine. For cytosines in the symmetric CpG sequence context, reads from the both strands are collapsed to give a single estimate. Very rarely do the levels differ between strands (typically only if there has been a substitution, as in a somatic mutation), and this approach gives a better estimate.

Bisulfite conversion rate: The bisulfite conversion rate for an experiment is estimated with the dnmtools bsrate command, which computes the fraction of successfully converted nucleotides in reads (those read out as Ts) among all nucleotides in the reads mapped that map over cytosines in the reference genome. This is done either using a spike-in (e.g., lambda), the mitochondrial DNA, or the nuclear genome. In the latter case, only non-CpG sites are used. While this latter approach can be impacted by non-CpG cytosine methylation, in practice it never amounts to much.

Identifying hypomethylated regions (HMRs): In most mammalian cells, the majority of the genome has high methylation, and regions of low methylation are typically the interesting features. (This seems to be true for essentially all healthy differentiated cell types, but not cells of very early embryogenesis, various germ cells and precursors, and placental lineage cells.) These are valleys of low methylation are called hypomethylated regions (HMR) for historical reasons. To identify the HMRs, we use the dnmtools hmr command, which uses a statistical model that accounts for both the methylation level fluctations and the varying amounts of data available at each CpG site.

Partially methylated domains: Partially methylated domains are large genomic regions showing partial methylation observed in immortalized cell lines and cancerous cells. The pmd program is used to identify PMDs.

Allele-specific methylation: Allele-Specific methylated regions refers to regions where the parental allele is differentially methylated compared to the maternal allele. The program allelic is used to compute allele-specific methylation score can be computed for each CpG site by testing the linkage between methylation status of adjacent reads, and the program amrfinder is used to identify regions with allele-specific methylation.

For more detailed description of the methods of each step, please refer to the DNMTools documentation.