Fig. 1.

Genetic variation at ACE2. (A) Location of coding variants and their MAF at ACE2 identified from the pooled dataset. (B) MAF of coding variants in diverse global ethnic groups. (C) The geographic distribution of the MAF for rs138390800 at ACE2 in diverse global ethnic groups is highlighted. Each pie denotes frequencies of alleles in the corresponding population. (D) Locations of identified nonsynonymous variants within the secondary structure of the ACE2 protein. (E) Six regulatory eQTLs located in an upstream enhancer of ACE2. RNA Pol2 ChIA-PET data and DNase-seq data of the large intestine, small intestine, lung, kidney, and heart are from ENCODE (68). (F) Haplotype frequencies of the six eQTLs in global populations. The six eQTLs were ordered by their genomic position on the chromosome (i.e., with the following order: rs4830977, rs4830978, rs5936010, rs4830979, rs4830980, and rs5934263). Haplotypes with frequency <0.01 are not shown.