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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