Research Article

NLRP3 Susceptible Gene Polymorphisms in Patients with Primary Gouty Arthritis and Hyperuricemia

Table 7

SNP functional annotation in HaploReg v4.1 and 3DSNP database.

SNPRefAltSNP functional annotation3D interacting gene

rs3738448GTPromoter histone marks, enhancer histone marks, DNAse, proteins bound, motifs changedGALNT2, GCSAML, GCSAML-AS1, OR2B11, OR2C3, and OR2W5
rs3806268GCEnhancer histone marksGALNT2, GCSAML, GCSAML-AS1, OR2B11, OR2C3, and OR2W5
rs7525979CTEnhancer histone marks, motifs changedGALNT2, GCSAML, GCSAML-AS1, OR2B11, OR2C3, and OR2W5

SNP: single-nucleotide polymorphism; Ref: reference; Alt: alternation; eQTL: expression quantitative trait loci.