In breast cancer, we observed that the lead variants were significantly enriched in the TFs ESR1 (n = 73 genes), followed by TCF7L2 (n = 13) and FOXA1 (n = 11) (Fisher’s exact test, P < 0.01 for all; Figure 3B and C, and Supplementary Data 8 and 9). The gene discussed is ESR1; the disease is breast carcinoma.