Table 4.
Significant and correlated SNPs with putative regulatory function (RegulomeDB Score 1–3).
| Gene | RegulomeDB score | Significant and correlated SNPs | Distance | eQTL | Protein binding | Binding motif |
|---|---|---|---|---|---|---|
| TGFB1 | 1b | rs1800469* | 0 | MGC4093 | POLR2A, CREBBP, CTCF | COUPTF |
| 1f | rs1982072 | 1378 | MGC4093 | |||
| 2b | rs2241712 | 3410 | NFKB1, CDX2, USF1, SP1, EGR1, ZBTB7A, IRF1, POLR2A, ELF1, GAPBA, SPI1, MAX, NRF1, TBP | SREBP, SREBP1 | ||
| TNFα | 1f | rs1800629* | 0 | AIF1 | SP1 | |
| PTGS2 | 2b | rs20417* | 0 | TFAP2A, TFAP2C | STAT1, E2F-1:DP-1, E2F-1:DP-2, E2F-4:DP-2, EWSR1-FLI1 | |
| PTGS1 | 2b | rs10306141 | 2085 | CTCF, TRIM28, SMC3, RAD21 | POU1F1 |
eQTL, expression quantitative trait loci;
Significant study SNPs.