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. 2011 Sep 9;89(3):459–463. doi: 10.1016/j.ajhg.2011.08.004

Figure 4.

Figure 4

Properties of Disease-Associated eQTLs

Percentage of disease-associated eQTLs of control eQTLs with respect to derived allele frequency in sliding windows of 0.05 (A) suggests an enrichment of disease-associated eQTLs in the parts of the frequency spectrum in which epistasis might increase the penetrance of rare coding variants. The vertical lines denote the average percentages. (B) The eQTL alleles linked to the disease risk allele are shown; + and − denoting the more highly or less expressed alleles.