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Table 1 Summary of functional studies identifying cis-regulatory elements in GWAS intervals

From: Transcriptional enhancers in development and disease

Putative regulatory SNP(s) Locus Putative target gene Protein function Disease Reference
rs12740374 1p13 SORT1 Intracellular trafficking and endocytosis Cardiovascular disease [65]
rs10811656, rs10757278 9p21 CDKN2A and CDKN2B Cellular proliferation and senescence Cardiovascular disease [66, 67]
rs7903146 10q25.2 TCF7L2 Transcriptional regulator of cell fate, survival and proliferation Type 2 diabetes [7173]
Novel 1 18q21 SMAD7 Cell signaling antagonist Colorectal cancer [79]
rs16888589 8q23.3 EIF3H Protein synthesis Colorectal cancer [80]
rs6983267 8q24 MYC Transcriptional regulator of cell fate, survival and proliferation Colorectal cancer [8184]
rs6983267, rs11986220 8q24 MYC Transcriptional regulator of cell fate, survival and proliferation Prostate cancer [81, 82, 85, 86]