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. 2015 Apr 22;212(8):1214–1221. doi: 10.1093/infdis/jiv246

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Figure 2. — Prioritization of rs383510 as the functional variant for the genetic association. A, The genetic architecture of TMPRSS2 gene. Upper panel shows the chromosomal region that accommodates TMPRSS2 gene in human reference genome assembly 19; middle panel, the regulatory regions (TMPRSS2 Rg) accommodating high–linkage disequilibrium (LD) single-nucleotide polymorphisms (SNPs) in Chinese (Chinese Han in Beijing [CHB]) and Asian (ASN) populations; lower panel, high-LD variants with rs2070788 (underlined). The variants as lung expression quantitative trait loci (eQTLs) are highlighted. Lung eQTL panel shows the locations of eQTLs and P values in −log₁₀ scale; horizontal bar represents the −log₁₀P value of 15. Among all the high-LD SNPs with rs2070788, rs383510 presents as both a potentially regulatory SNP and the strongest lung eQTL. B, A total of 9 putatively functional variants in vicinity of TMPRSS2 gene were applied to LD analysis with association SNP rs2070788, based on genotype data for CHB and ASN populations from the 1000 Genomes Project.