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. 2016 Oct 13;99(5):1059–1071. doi: 10.1016/j.ajhg.2016.09.002

Figure 1.

Figure 1

Replication of the rs2071473 T/C Polymorphism as an eQTL for TAP2

(A) Boxplots of uterine TAP2 expression from GTEx data. Below each boxplot is the number of individuals with each genotype.

(B) Region association plot showing GTEx SNPs that are significant eQTLs for TAP2 expression (−log10 p value, left y axis). SNPs are color coded on the basis of their LD with rs2071473 (purple diamond). Local recombination rates are shown on the right y axis.

(C) Gene-eQTL visualizer plot showing significant eQTLs for TAP2 (see inset key for −log10 p value and effect-size coding) across 39 GTEx tissues. Tissues are sorted by largest effect size from top to bottom. Numbers in black ovals indicate sample sizes. The locations of TAP2 coding exons are shown with light-blue shading, and the transcription start site (TSS) and transcription end site (TES) are indicated.