rs4795397

This is a regulatory region variant variant in the ZPBP2 gene.

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GWAS Catalog Trait Associations (3)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

lymphocyte count

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele G
OR —
p 2.0e-61
N 643,370
Large GWAS
multi-ancestry
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.02
p 3.0e-36
N 394,642
Large GWAS
European

platelet-to-lymphocyte ratio

Kachuri L et al. “Genetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia.” American Journal of Human Genetics 108(10):1823-1835 (2021)
Allele A
OR —
p 4.0e-30
N 234,552
Large GWAS
European

asthma

Yan Q et al. “A meta-analysis of genome-wide association studies of asthma in Puerto Ricans.” The European Respiratory Journal 49(5) (2017)
Allele A
OR —
p 4.0e-12
N 5,037
Meta-analysis
Hispanic or Latin American
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Research that mentions this SNP (1)

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Interaction between genetic and epigenetic variation defines gene expression patterns at the asthma-associated locus 17q12-q21 in lymphoblastoid cell lines
FunctionalSoizik Berlivet et al.(2012)· Human Genetics

This functional study examined how genetic and epigenetic factors interact to regulate gene expression at the asthma-associated locus 17q12-q21 in lymphoblastoid cell lines. The rs4795397 SNP in the ZPBP2 promoter showed strong allele-dependent effects on promoter activity in vitro (P < 0.01), with the rs4795397-A allele (HapA-associated) showing higher promoter activity and nucleosome repositioning. However, variable DNA methylation of ZPBP2 exon 1 masked the genetic effects in lymphoblastoid cell lines, while the unmethylated ORMDL3 promoter allowed detection of genetic effects.

Traits studied:AsthmaCrohn diseaseRheumatoid arthritisUlcerative colitis
PubMedDOIMetascience Observatory

About ZPBP2

Predicted to be involved in acrosome assembly and binding activity of sperm to zona pellucida. Predicted to act upstream of or within membrane lipid metabolic process and regulation of gene expression. Located in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

View all ZPBP2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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