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[Preprint]. 2020 Apr 10:2020.04.09.034454. [Version 1] doi: 10.1101/2020.04.09.034454

Figure 5. ACE2 and TMPRSS2 nasal airway expression are regulated by eQTL variants.

Figure 5.

(a) Locuszoom plot of ACE2 eQTL signals. The lead eQTL variant (rs18160331) is highlighted with a purple dot. The strength of Linkage Disequilibrium (LD) between rs18160331 and other variants is discretely divided into five quantiles and mapped into five colors (dark blue, sky blue, green, orange, and red) sequentially from low LD to high LD.

(b) Locuszoom plot of TMPRSS2 eQTL signals. The three independent eQTL variants (rs1475908, rs2838057, rs74659079) and their LD with other variants (r2) are represented by red, blue, and green color gradient respectively.

(c) Box plots of normalized ACE2 expression among the three genotypes of the lead ACE2 eQTL variant (rs18160331). log2AFC = log2 of the allelic fold change associated with the variant.

(d) Box plots of normalized TMPRSS2 expression among the three genotypes of the lead TMPRSS2 eQTL variant (rs1475908). log2AFC = log2 of the allelic fold change associated with the variant.

(e) Bar plots depicting allele frequencies of the ACE2 eQTL variant rs18160331 and TMPRSS2 eQTL variants (rs1475908, rs2838057, rs74659079) across world populations. Allele frequency data were obtained from gnomAD v2.1.1.