For example, in signal 1, rs812020 (per C-allele OR = 0.89, 95 % CI 0.87–0.91, P = 2 × 10-27) was annotated to a region bound by multiple key transcription factors for breast cancer, including GATA3 and FOXA1 (Fig. 3a and b). The gene discussed is FOXA1; the disease is breast carcinoma.