rs115906455

This is a regulatory region variant variant in the ELL2 gene.

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GWAS Catalog Trait Associations (3)

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

erythrocyte volume

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 3.0e-13
N 696,882
Large GWAS
multi-ancestry

mean corpuscular hemoglobin

Hu Y et al. “Whole-genome sequencing association analysis of quantitative red blood cell phenotypes: The NHLBI TOPMed program.” American Journal of Human Genetics 108(5):874-893 (2021)
Allele A
OR 0.43
p 3.0e-9
N 46,241
Large GWAS
multi-ancestry

mean corpuscular hemoglobin concentration

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 0.20
p 1.0e-9
N 11,974
Large GWAS
African American or Afro-Caribbean, African unspecified

About ELL2

Predicted to enable cis-regulatory region sequence-specific DNA binding activity. Involved in snRNA transcription by RNA polymerase II. Located in nucleoplasm. Part of transcription elongation factor complex. [provided by Alliance of Genome Resources, Jul 2025]

View all ELL2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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