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

[66,67]

rs7903146

10q25.2

TCF7L2

Transcriptional regulator of cell fate, survival and proliferation

Type 2 diabetes

[71-73]

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

[81-84]

rs6983267, rs11986220

8q24

MYC

Transcriptional regulator of cell fate, survival and proliferation

Prostate cancer

[81,82,85,86]


Sakabe et al. Genome Biology 2012 13:238   doi:10.1186/gb-2012-13-1-238