rs2239633

This is a upstream gene variant variant in the CEBPE gene.

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GWAS Catalog Trait Associations (5)

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

eosinophil 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 A
OR 0.03
p 2.0e-68
N 474,237
Large GWAS
European
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.02
p 2.0e-40
N 442,919
Large GWAS
multi-ancestry
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.03
p 1.0e-30
N 408,112
Large GWAS
European
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.03
p 8.0e-38
N 394,642
Large GWAS
European
Höglund J et al. “Gene-Based Variant Analysis of Whole-Exome Sequencing in Relation to Eosinophil Count.” Frontiers in Immunology 13:862255 (2022)
Allele A
OR 0.03
p 2.0e-17
N 365,954
Large GWAS
European
Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)
Allele A
OR 0.04
p 1.0e-32
N 172,275
Large GWAS
European

eosinophil percentage of leukocytes

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.03
p 3.0e-53
N 394,642
Large GWAS
European
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.04
p 2.0e-29
N 408,112
Large GWAS
European
Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)
Allele A
OR 0.04
p 4.0e-29
N 172,378
Large GWAS
European

eosinophil percentage of granulocytes

Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)
Allele A
OR 0.04
p 3.0e-31
N 170,536
Large GWAS
European

monocyte count

Jacobs BM et al. “Genetic architecture of routinely acquired blood tests in a British South Asian cohort.” Nature Communications 15(1):8929 (2024)
Allele A
OR 0.05
p 4.0e-13
N 38,000
Large GWAS
South Asian

acute lymphoblastic leukemia

Wiemels JL et al. “GWAS in childhood acute lymphoblastic leukemia reveals novel genetic associations at chromosomes 17q12 and 8q24.21.” Nature Communications 9(1):286 (2018)
Allele T
OR 1.27
p 7.0e-13
N 19,240
Large GWAS
multi-ancestry
Ellinghaus E et al. “Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia.” Leukemia 26(5):902-9 (2012)
Allele T
OR 1.33
p 2.0e-8
N 900
Small GWAS
European
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Research that mentions this SNP (3)

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Association of TLX1 gene polymorphisms with the risk of acute lymphoblastic leukemia and B lineage acute lymphoblastic leukemia in Han Chinese children
AssociationN=458Endian Mei et al.(2020)· Journal of Clinical Laboratory Analysis

This case-control study examined six TLX1 gene SNPs in 217 childhood acute lymphoblastic leukemia (ALL) cases and 241 controls from Han Chinese. rs17113735 showed increased ALL risk (OR 3.01, 95% CI 1.33-6.79, P=0.006) while rs946328 showed decreased risk (OR 0.64, 95% CI 0.42-0.98, P=0.039). For B-cell ALL specifically, rs17113735 increased risk (OR 2.94, 95% CI 1.29-6.72, P=0.008) and rs2075879 decreased risk (OR 0.66, 95% CI 0.44-0.99, P=0.044).

Traits studied:Acute lymphoblastic leukemiaB-cell acute lymphoblastic leukemiaT-cell acute lymphoblastic leukemia
PubMedDOIMetascience Observatory
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Replication analysis confirms the association of several variants with acute myeloid leukemia in Chinese population
AssociationN=1,579Songyu Cao et al.(2016)· Journal of Cancer Research and Clinical Oncology

Replication study in a Chinese population confirming associations between 16 SNPs and acute myeloid leukemia (AML) risk identified in European GWAS studies. Seven SNPs showed significant associations with AML susceptibility, including rs2191566 (OR=1.46), rs9290663 (OR=1.26), rs11155133 (OR=1.32), rs10873876 (OR=0.62, protective), rs2239633, rs10821936, and rs2242041, in a case-control study of 545 AML cases and 1034 controls.

Traits studied:AMLAcute myeloid leukemia
PubMedDOIMetascience Observatory
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Genetic variants modify susceptibility to leukemia in infants: A Children's Oncology Group report
AssociationN=555Julie A. Ross et al.(2013)· Pediatric Blood &amp; Cancer

A Children's Oncology Group candidate gene study of 171 infant leukemia cases and 384 controls examined three susceptibility loci (IKZF1, ARID5B, CEBPE) identified from childhood ALL GWAS. IKZF1 variants were associated with infant AML, irrespective of MLL rearrangements (OR=0.3 for AML/MLL- heterozygotes, 95% CI=0.1-0.9), providing the first evidence that IKZF1 modifies susceptibility to infant leukemia.

Traits studied:Acute lymphoblastic leukemia (ALL)Acute myeloid leukemia (AML)Infant leukemia
PubMedDOIMetascience Observatory

About CEBPE

The protein encoded by this gene is a bZIP transcription factor which can bind as a homodimer to certain DNA regulatory regions. It can also form heterodimers with the related protein CEBP-delta. The encoded protein may be essential for terminal differentiation and functional maturation of committed granulocyte progenitor cells. Mutations in this gene have been associated with Specific Granule Deficiency, a rare congenital disorder. Multiple variants of this gene have been described, but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008]

View all CEBPE variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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