Table 1 |
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|
Summary of functional studies identifying cis-regulatory elements in GWAS intervals |
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|
Putative regulatory SNP(s) |
Locus |
Putative target gene |
Protein function |
Disease |
Reference |
|
|
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|
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 |
|
|
|
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|
Sakabe et al. Genome Biology 2012 13:238 doi:10.1186/gb-2012-13-1-238 |
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