Of particular note, four proxy SNPs which were in strong LD with obesity GWAS lead SNP rs977747 (located at 1p32 region) had scores of 1, were eQTLs for PDZK1IP1. Twenty-two proxy SNPs located at 1q21-q22 region had scores of 1, were eQTLs for CTSS. Four lead SNPs and multiple proxy SNPs located in 2p23.3 region were eQTLs for ADCY3. Additionally, some SNPs were located at the binding sites of obesity related transcription factors CEBPB, TCF7L2, STAT3, SPI1, GATA2, CREB1 and MEF2C (Table 1 and S2 Table). The gene discussed is MEF2C; the disease is obesity due to melanocortin 4 receptor deficiency.