Table A4.
The TF binding motifs affected by potentially deleterious variants.
| SNP | TF | Motif | TF Binding Site | p |
|---|---|---|---|---|
| rs3087873 | SMAD | AP1_disc10 | Enhance | 0.00212 |
| rs3087873 | ESRRA | AP1_disc10 | Enhance | 0.00212 |
| rs3087873 | MYC | AP1_disc10 | Enhance | 0.00212 |
| rs2286239 | RAD21 | RAD21_disc5 | Enhance | 0.0034 |
| rs33749 | ETS | RAD21_disc5 | Enhance | 0.00348 |
| rs622861 | REST | RUNX2_1 | Enhance | 0.00414 |
| rs2209956 | AP1 | HLTF_1 | Enhance | 0.00858 |
| rs11807205 | SOX10 | LEF1_1 | Enhance | 0.01723 |
| rs11807205 | TFAP2A | LEF1_1 | Enhance | 0.01723 |
| rs11807205 | GATA3 | LEF1_1 | Enhance | 0.01723 |
| rs11807205 | E2F1 | LEF1_1 | Enhance | 0.01723 |
| rs11807205 | SETDB1 | LEF1_1 | Enhance | 0.01723 |
| rs12495243 | EN1 | EN1_2 | Enhance | 0.01832 |
| rs2042367 | LEF1 | GATA_1 | Enhance | 0.02353 |
| rs33749 | ZNF143 | CHD2_disc3 | Enhance | 0.02499 |
| rs4535042 | TFAP2A | TFAP2A_1 | Enhance | 0.03305 |
| rs4535042 | TFAP2A | TFAP2A_4 | Enhance | 0.03305 |
| rs12495243 | VDR | VDR_1 | Disrupt | 0.03416 |
| rs3087873 | PITX2 | REST_disc8 | Enhance | 0.03947 |
| rs3087873 | ELF1 | REST_disc8 | Enhance | 0.03947 |
| rs3087873 | GATA2 | REST_disc8 | Enhance | 0.03947 |
| rs913178 | VDR | EP300_disc9 | Disrupt | 0.0429 |
| rs913178 | AP1 | EP300_disc9 | Disrupt | 0.0429 |
| rs913178 | BCL | EP300_disc9 | Disrupt | 0.0429 |
Notes: TF—transcription factor, Motif—binding sites with high affinity to TF. p—p-value that statistically confirms potential stimulation or loss of function of the genomic region harboring SNP in terms of TF binding.