Table 3.
Results from the in silico functional prediction
| SNP | Allele | Gene symbol | Predicted function |
Splice distance |
TFBS | Promoter histone marks |
Enhancer histone marks |
Proteins bound |
Motifs changed |
RegulomeDBa |
|---|---|---|---|---|---|---|---|---|---|---|
| rs13053856 | A/G | MIRLET7BHG | Intronic | 753 | NHLF, HMEC, NHEK, HSMM |
ERalpha-a, INSM1 |
2b | |||
| rs11090910 | C/T | MIRLET7BHG | 3’ Downstream | Yes | H1, HSMM | 5 | ||||
| MIRLET7A3 | 5’ Upstream | |||||||||
| MIR4763 | 5’ Upstream | |||||||||
| MIRLET7B | 5’ Upstream | |||||||||
| rs11703832 | C/T | MIRLET7BHG | Intronic | 980 | Yes | HepG2 | NHLF, NHEK, HMEC, HSMM, HepG2 |
7 altered motifs |
4 | |
| rs12170325 | C/T | MIRLET7BHG | 3’ Downstream | 2277 | HepG2 | HepG2, NHLF, HMEC, NHEK, HSMM, H1 |
TAF1 | Hsf, Mef2 | 2b |
a
RegulomeDB scores: 1a: eQTL + TF binding + matched TF motif + matched DNase Footprint + DNase peak; 1b: eQTL + TF binding + any motif + DNase Footprint + DNase peak; 1c: eQTL + TF binding + matched TF motif + DNase peak; 1d: eQTL + TF binding + any motif + DNase peak;1e: eQTL + TF binding + matched TF motif;1f: eQTL + TF binding / DNase peak; 2a: TF binding + matched TF motif + matched DNase Footprint + DNase peak; 2b: TF binding + any motif + DNase Footprint + DNase peak; 2c, TF binding + matched TF motif + DNase peak; 3a: TF binding+ any motif + DNase peak; 3b: TF binding + matched TF motif; 4: TF binding + DNase peak; 5: TF binding or DNase peak; 6: other