Indeed, four functional SNPs (rs6507874, rs6507875, rs8085824, and rs58920878) contained within this enhancer have demonstrated allele-specific enhancer activity in HCT116, correlating with increased expression of SMAD7 in normal colon epithelial tissues, and were located within sequences that bound to nuclear proteins from CRC cell lines in an allele-specific manner in electrophoretic mobility shift assays31. Here, SMAD7 is linked to colorectal carcinoma.