Table 1. Variants in the promoter region of EPAS1 gene identified in Tibetans.
Number | SNP IDa | Chromosomal position (bp) | Position relative to the TSSb | Allele Variantsc | MAF (Tibetan) | MAF (Han) | Variantd type |
---|---|---|---|---|---|---|---|
1 | NA | 46522745 | −1796 | T/C | 0.036 | 0.000 | SNP |
2 | rs59862329 | 46523463 | −1078 | T/C | 0.140 | 0.005 | SNP |
3 | rs56721780 | 46523655 | −886 | G/C | 0.372 | 0.010 | SNP |
4 | NA | 46523799 | −742 | DEL/IN | 0.395 | 0.000 | INDEL |
5 | NA | 46523835 | −706 | C/T | 0.256 | 0.000 | SNP |
6 | rs13391305 | 46523921 | −620 | T/C | 0.134 | 0.005 | SNP |
7 | rs13428739 | 46523934 | −607 | C/T | 0.384 | 0.013 | SNP |
8 | NA | 46524015 | −526 | A/C | 0.012 | 0.000 | SNP |
9 | NA | 46524250 | −291 | C/T | 0.012 | 0.000 | SNP |
10 | NA | 46524403 | −138 | G/C | 0.395 | 0.000 | SNP |
11 | NA | 46524412 | −129 | G/A | 0.395 | 0.000 | SNP |
Note: aNA, not available; bTSS, transcriptional start site; cthe second allele is minor allele; dINDEL, insertion and deletion.