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. 2014 Dec 12;4:7465. doi: 10.1038/srep07465

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.