Table 1 Summary of functional studies identifying cis-regulatory elements in GWAS intervals
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 | |
rs7903146 | 10q25.2 | TCF7L2 | Transcriptional regulator of cell fate, survival and proliferation | Type 2 diabetes | |
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 | |
rs6983267, rs11986220 | 8q24 | MYC | Transcriptional regulator of cell fate, survival and proliferation | Prostate cancer |