Systematic Identification of Regulatory Variants Associated with Cancer Risk

We adapted the self-transcribing active regulatory region sequencing (Starr-seq) strategy to systematically identify the SNPs that affect gene expression by modulating activities of regulatory elements. Among 10,673 SNPs linked with 996 GWAS-identified cancer-risk SNPs, we found 70 regulatory variants for which the two alleles conferred different regulatory activities. We analyzed one of them in-depth and confirmed its target by CRIPSR-Cas9 technology. Our results will help the interpretation of GWAS results and better cancer risk assessment. Overall design: Starr-seq analysis in 293T cell lines (2 replicates), Input plasmid library before transfection (2 replicates)