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 ID | SNP position | RegulomeDB score | TFBSa | Promoter flanking | Enhancer | Weak enhancer | Transcription start site (TSS) | CTCF rich |
|---|---|---|---|---|---|---|---|---|
| rs10406920 | 17389648 | 3a | + | |||||
| rs113299211 | 17400765 | 5 | Gm12878 | |||||
| rs11540855 | 17403361 | 2a | + | Huvec, H1hesc, Gm12878 | ||||
| rs11667661 | 17390579 | 2b | ||||||
| rs11669059 | 17400453 | 2b | + | Huvec | ||||
| rs12982178 | 17371568 | 3a | H1hesc | Huvec | ||||
| rs2363956 | 17394124 | 5 | Huvec | |||||
| rs34084277 | 17387176 | 1f | ||||||
| rs35686037 | 17359535 | 2b | + | H1hesc | ||||
| rs4808616 | 17403033 | 2b | H1hesc | Gm12878 | ||||
| rs55924783 | 17404072 | 5 | H1hesc, Gm12878 | |||||
| rs56069439 | 17393925 | 4 | + | H1hesc | H1hesc | |||
| rs66753001 | 17394839 | 5 | H1hesc | |||||
| rs73509996 | 17393449 | 4 | + | Huvec | Huvec, H1hesc | |||
| rs8100241 | 17392894 | 4 | + | Huvec, H1hesc | Gm12878 | |||
| rs8108174 | 17393530 | 2b | + | Huvec, H1hesc, Gm12878 | ||||
| rs8170 | 17389704 | 4 | + |
a
Indicated with + when overlapping with the ENCODE Uniform transcription factor binding site (TFBS) track