BD‐associated variants could disturb binding sites of SP1, SP2, IRF1, PAX4 and RUNX2; whereas obesity‐associated variants could disturb binding sites of IRF1, PAX5, ARID3A, KLF1, KLF4, KLF5 and FOXP1. The description of variants that disrupt binding sites of the previous TF is shown in Table 3, including alleles and the identifier of variants. The gene discussed is SP1; the disease is obesity due to melanocortin 4 receptor deficiency.