rs11090039

This is a intron variant variant in the EP300 gene.

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GWAS Catalog Trait Associations (4)

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

irritable bowel syndrome

Alemany S et al. “Genome-wide multi-trait analysis of irritable bowel syndrome and related mental conditions identifies 38 new independent variants.” Journal of Translational Medicine 21(1):272 (2023)
Allele A
OR 0.01
p 3.0e-13
N 887,490
Large GWAS
European

insomnia

Watanabe K et al. “Genome-wide meta-analysis of insomnia prioritizes genes associated with metabolic and psychiatric pathways.” Nature Genetics 54(8):1125-1132 (2022)
Allele A
OR 0.01
p 7.0e-11
N 1,409,137
Meta-analysisLarge GWAS
European

mood instability measurement

Nagel M et al. “Item-level analyses reveal genetic heterogeneity in neuroticism.” Nature Communications 9(1):905 (2018)
Allele A
OR 6.38
p 2.0e-10
N 373,733
Large GWAS
European

insomnia measurement

Jansen PR et al. “Genome-wide analysis of insomnia in 1,331,010 individuals identifies new risk loci and functional pathways.” Nature Genetics 51(3):394-403 (2019)
Allele A
OR 1.04
p 2.0e-9
N 1,331,010
Large GWAS
European

About EP300

This gene encodes the adenovirus E1A-associated cellular p300 transcriptional co-activator protein. It functions as histone acetyltransferase that regulates transcription via chromatin remodeling and is important in the processes of cell proliferation and differentiation. It mediates cAMP-gene regulation by binding specifically to phosphorylated CREB protein. This gene has also been identified as a co-activator of HIF1A (hypoxia-inducible factor 1 alpha), and thus plays a role in the stimulation of hypoxia-induced genes such as VEGF. Defects in this gene are a cause of Rubinstein-Taybi syndrome and may also play a role in epithelial cancer. [provided by RefSeq, Jul 2008]

View all EP300 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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