In addition, all three of these variants are marginal eQTLs for SOX4 in TCGA melanomas (rs6935117, P = 0.01; rs6935124, P = 0.01; and rs2125570, P = 0.01; Table S21) with direction of effect matching reporter assay data, i.e. risk alleles for these variants are associated with higher SOX4. The gene discussed is SOX4; the disease is melanoma.