Table 3. Distribution of RegulomeDB variants categories6.
Category | Description | SNPs Number |
---|---|---|
Likely to affect binding and linked to expression of a gene target | ||
1a | eQTL + TF binding + matched TF motif + matched DNase footprint + DNase peak | 1 |
1b | eQTL + TF binding + any motif + DNase footprint + DNase peak | 5 |
1c | eQTL + TF binding + matched TF motif + DNase peak | 0 |
1d | eQTL + TF binding + any motif + DNase peak | 5 |
1e | eQTL + TF binding + matched TF motif | 0 |
1f | eQTL + TF binding/DNase peak | 25 |
Likely to affect binding | ||
2a | TF binding + matched TF motif + matched DNase footprint + DNase peak | 1 |
2b | TF binding + any motif + DNase footprint + DNase peak | 24 |
2c | TF binding + matched TF motif + DNase peak | 0 |
Less likely to affect binding | ||
3a | TF binding + any motif + DNase peak | 48 |
3b | TF binding + matched TF motif | 1 |
Minimal binding evidence | ||
4 | TF binding + DNase peak | 85 |
5 | TF binding or DNase peak | 241 |
6 | Motif hit | 226 |
No data# | 206 |
eQTL = expression quantitative trait loci, TF = transcription factor, DNase = deoxyribonuclease, #No data is available in RegulomeDB scoring scheme.