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. 2019 Nov 6;29(4):554–565. doi: 10.1093/hmg/ddz256

Figure 3.

Figure 3

The risk allele (T) of rs2836411 reduces enhancer activity and correlates with lower ERG and LINC0014 expression. (A) Allele-specific enhancer activity of rs2836411 compared to the control pGL4.23 vector was assessed using a luciferase reporter assay in HUVECs. The C variant (protective allele) harboured enhancer activity that was significantly reduced for the T variant (risk allele). The average of five biological replicates ± the standard error of the mean is shown. Statistical significance was determined by a one-way ANOVA followed by a Sidak’s multiple comparisons test. (B) eQTL data from GTEx for rs2836411. Violin plots of normalized expression levels from individuals (number indicated below the genotypes) containing the rs2836411 CC, CT or TT alleles in the indicated vascular tissue types were obtained using the GTEx data portal (72). Only data that reached P < 0.05 in individual look-ups using the GTEx eQTL calculator for rs2836411 and the genes ERG, KCNJ15, LINC00114, ETS2, PSMG1 in vascular tissue types (aorta, tibial artery, left ventricle, coronary artery and arterial appendage) are shown here.