rs3787016

This is a downstream gene variant variant in the POLR2E gene.

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GWAS Catalog Trait Associations (1)

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

level of serum globulin type protein

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele G
OR 0.02
p 1.0e-17
N 325,292
Major Consortium StudyLarge GWAS
multi-ancestry
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Research that mentions this SNP (2)

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Genome‐wide scan of long noncoding RNA single nucleotide polymorphisms and pancreatic cancer susceptibility
AssociationN=19,862Chiara Corradi et al.(2021)· International Journal of Cancer

Genome-wide scan of long noncoding RNA (lncRNA) variants in 19,862 individuals identified five novel lncSNP associations with pancreatic ductal adenocarcinoma (PDAC) risk. The strongest association was rs7046076 (C allele, OR=1.13, 95% CI=1.09-1.18, P=9.73×10⁻⁹) in the NONHSAG053086.2/lnc-SMC2-1 lncRNA, which disrupts binding to hsa-mir-1256, regulating genes including CDKN2B and DAAM1 involved in cell cycle control and cell migration.

Traits studied:Pancreatic cancerPancreatic ductal adenocarcinoma (PDAC)Pancreatic neuroendocrine tumors
PubMedDOIMetascience Observatory
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The expression of long non coding RNA genes is associated with expression with polymorphisms of HULC rs7763881 and MALAT1 rs619586 in hepatocellular carcinoma and HBV Egyptian patients
AssociationN=838Tarek M.K. Motawi et al.(2019)· Journal of Cellular Biochemistry

Case-control study of 459 gastric cancer patients and 379 controls in a Korean population examined the association between HULC rs7763881 polymorphism and gastric cancer risk. Overall analysis showed no significant association, but stratified analysis revealed that the CC genotype was significantly associated with increased risk in undifferentiated gastric cancer (OR = 1.85, 95% CI = 1.17–2.94, P = 0.009), diffuse-type GC (OR = 1.72, 95% CI = 1.05–2.82, P = 0.033), lymph node metastasis-positive tumors (OR = 2.02, 95% CI = 1.24–3.27, P = 0.004), and advanced tumor stages.

Traits studied:Colorectal cancerEsophageal squamous cell carcinomaGastric cancerGliomaHepatocellular carcinomaOsteosarcomaOvarian cancerPancreatic cancer
PubMedDOIMetascience Observatory

About POLR2E

This gene encodes the fifth largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This subunit is shared by the other two DNA-directed RNA polymerases and is present in two-fold molar excess over the other polymerase subunits. An interaction between this subunit and a hepatitis virus transactivating protein has been demonstrated, suggesting that interaction between transcriptional activators and the polymerase can occur through this subunit. A pseudogene is located on chromosome 11. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]

View all POLR2E variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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