Table 5.
Identification of regulatory DNA elements coinciding with risk variants
| rsID | Chr | Position | Nearest Gene |
Location | ENCODE | ROADMAP | DNAse |
† Super Enhancer |
Motifs | ||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Promoter | Enhancer | Promoter | Enhancer | ||||||||
| rs3771044 | 2 | 206577411 | NRP2 | Intronic | BATF; ERα;Maf | ||||||
| rs10460829 | 3 | 124665905 | MUC13 | Intergenic | Gmeb1; p300 | ||||||
| rs2100143 | 3 | 172202876 | TNFSF10 | Intergenic | ERα;HNF4;LRH1; MIF1;RXR::LXR; RXRA; SF1 | ||||||
| rs10513702 | 3 | 172186953 | GHSR | Intergenic | |||||||
| rs172310 | 7 | 155615627 | SHH | Intergenic | RXRA;SP1;TR4 | ||||||
| rs10954593 | 7 | 81036747 | AC008163.4 | Intergenic | GR;HMG-IY; Hoxa3;Myc; Nkx6-1;Pax-4;SIX5;XBP-1 | ||||||
| rs288761 | 7 | 155633481 | SHH | Intergenic | |||||||
| rs1233556 | 7 | 155600417 | SHH | Intronic | Ets; NF-kappaB | ||||||
| rs17702471 | 13 | 93877117 | GPC6 | Intergenic | RXRA | ||||||
| rs10794486 | 15 | 99301535 | IGF1R | Intronic | Esx1; GR;OTX;Pax7 | ||||||
| rs8030039 | 15 | 90767489 | SEMA4B | Intronic | Irf;SR | ||||||
| rs7053448 | X | 154193211 | F8 | Intronic | Foxa;Foxf2; Foxj2;Foxk1; Foxl1;Pou3f1; Pou5f1;Sox15;Sox19;Sox2; TATA;Zfp105 | ||||||
| rs7058826 | X | 154194989 | F8 | Intronic | DMRT1; ERα;Esr2;Foxa;RREB-1 | ||||||
Using data from Haploreg, ENCODE and and † Hnisz et al (2013).
Identification of regulatory DNA elements coinciding with risk variants, using data from Haploreg, ENCODE and Hnisz et al (2013). TF, transcription factor.