Table 2.
SNP mapping to RCGTG motifs within potential HIF-targets
| SNP_ID | Validation | Allele | SNP_HBS | Gene | Chr | Coordin | Max_HBS |
|---|---|---|---|---|---|---|---|
| rs17004038 | cluster, freq | C/A | _ACGT | MIF | 22 | 24 236 591 | YES |
| rs17152486 | freq, hapmap | C/T | A_GTG | FLJ23834 | 7 | 105 671 891 | YES |
| rs3758554 | freq | C/G | CA_GC | LDB1 | 10 | 103 874 672 | NO |
| rs16943318 | cluster, freq, hapmap | G/A | CAC_C | RORA | 15 | 61 209 971 | NO |
| rs13358075 | hapmap | T/A | ACG_G | SPOCK1 | 5 | 136 347 100 | NO |
| rs58433430 | NA | C/T | A_GTG | KLHL14 | 18 | 30 265 315 | YES |
| rs2901215 | NA | T/G | ACG_G | TIAL1 | 10 | 121 356 578 | NO |
| rs56306258 | NA | A/T | _CGTG | ANKRD12 | 18 | 9 136 756 | NO |
| rs56033752 | NA | G/A | AC_TG | DLG2 | 11 | 83 898 942 | NO |
| rs34394782 | NA | C/A/T | CACG_ | CITED2 | 6 | 139 695 473 | NO |
| rs34476700 | NA | G/- | _CGTG | SENP3 | 17 | 7 463 409 | NO |
| rs56298217 | NA | G/A | GC_TG | CLK3 | 15 | 74 914 649 | NO |
The ‘_’ symbol indicates the position of the SNP within the potential HIF-binding site. Max_HBS indicates whether the SNP maps to the highest scoring HBS identified for each locus.
Note that only one of the possible alleles generates an RCGTG motif.