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Table 2 Functional annotation of TIMP-2 SNPs using RegulomeDB and HaploReg

From: Association between TIMP-2 gene polymorphism and breast cancer in Han Chinese women

SNP

Gene

Allele

RegulomeDB

HaploReg

rs2277698 (synonymous)

TIMP-2

T/C

No Data

SiPhy conse, Selected eQTL hits

rs2009196 (intronic)

TIMP-2

C/G

5

DNase, Motifs changed, Selected eQTL hits

rs7342880 (intronic)

TIMP-2

A/C

5

DNase, Motifs changed, Selected eQTL hits

rs11654470 (intronic)

TIMP-2

C/T

5

DNase, Motifs changed, Selected eQTL hits

rs2003241 (intronic)

TIMP-2

C/T

3a

DNase, Motifs changed, Selected eQTL hits

rs4789936 (5′-UTR)

TIMP-2

T/C

2b

Motifs changed, Selected eQTL hits

  1. SNP: single nucleotide polymorphism; eQTL: expression quantitative trait loci; 2b: Transcription factor binding +any motif +DNase footprint + DNase peak; 3a: Transcription factor binding +any motif + DNase peak; 5: Transcription factor binding or DNase peak