Table 3.

Variants in the region 19p13 with a putative functional effect using ENCODE combined genome segmentation assessed in Huvec, H1hesc, and Gm12878 cell lines

SNP IDSNP positionRegulomeDB scoreTFBSaPromoter flankingEnhancerWeak enhancerTranscription start site (TSS)CTCF rich
rs10406920173896483a+
rs113299211174007655Gm12878
rs11540855174033612a+Huvec, H1hesc, Gm12878
rs11667661173905792b
rs11669059174004532b+Huvec
rs12982178173715683aH1hescHuvec
rs2363956173941245Huvec
rs34084277173871761f
rs35686037173595352b+H1hesc
rs4808616174030332bH1hescGm12878
rs55924783174040725H1hesc, Gm12878
rs56069439173939254+H1hescH1hesc
rs66753001173948395H1hesc
rs73509996173934494+HuvecHuvec, H1hesc
rs8100241173928944+Huvec, H1hescGm12878
rs8108174173935302b+Huvec, H1hesc, Gm12878
rs8170173897044+
  • aIndicated with + when overlapping with the ENCODE Uniform TFBS track.