rs6021247

This is a regulatory region variant variant in the NFATC2 gene.

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GWAS Catalog Trait Associations (8)

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

systolic blood pressure

Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele A
OR 0.02
p 2.0e-20
N 928,679
Large GWAS
multi-ancestry
Koskeridis F et al. “Multi-trait association analysis reveals shared genetic loci between Alzheimer's disease and cardiovascular traits.” Nature Communications 15(1):9827 (2024)
Allele A
OR 0.01
p 5.0e-14
N 1,212,859
Large GWAS
European
Keaton JM et al. “Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits.” Nature Genetics 56(5):778-791 (2024)
Allele A
OR 0.20
p 1.0e-17
N 1,028,980
Large GWAS
multi-ancestry
Evangelou E et al. “Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.” Nature Genetics 50(10):1412-1425 (2018)
Allele A
OR 0.20
p 4.0e-17
N 757,601
Large GWAS
European
Plotnikov D et al. “High Blood Pressure and Intraocular Pressure: A Mendelian Randomization Study.” Investigative Ophthalmology & Visual Science 63(6):29 (2022)
Allele A
OR 0.21
p 2.0e-9
N 526,001
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 0.01
p 2.0e-12
N 485,664
Large GWAS
multi-ancestry
Takeuchi F et al. “Interethnic analyses of blood pressure loci in populations of East Asian and European descent.” Nature Communications 9(1):5052 (2018)
Allele A
OR 0.37
p 5.0e-9
N 130,777
Large GWAS
multi-ancestry
Pozarickij A et al. “Causal relevance of different blood pressure traits on risk of cardiovascular diseases: GWAS and Mendelian randomisation in 100,000 Chinese adults.” Nature Communications 15(1):6265 (2024)
Allele A
OR 0.70
p 1.0e-13
N 100,453
Large GWAS
East Asian

diastolic blood pressure

Keaton JM et al. “Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits.” Nature Genetics 56(5):778-791 (2024)
Allele A
OR 0.12
p 4.0e-15
N 1,028,980
Large GWAS
multi-ancestry
Koskeridis F et al. “Multi-trait association analysis reveals shared genetic loci between Alzheimer's disease and cardiovascular traits.” Nature Communications 15(1):9827 (2024)
Allele A
OR 0.01
p 4.0e-13
N 1,212,859
Large GWAS
European
Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele A
OR 0.01
p 5.0e-12
N 928,679
Large GWAS
multi-ancestry
Pozarickij A et al. “Causal relevance of different blood pressure traits on risk of cardiovascular diseases: GWAS and Mendelian randomisation in 100,000 Chinese adults.” Nature Communications 15(1):6265 (2024)
Allele A
OR 0.38
p 2.0e-12
N 100,453
Large GWAS
East Asian

Calcium channel blocker use measurement

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 0.04
p 2.0e-11
N 383,104
Large GWAS
multi-ancestry
Wu Y et al. “Genome-wide association study of medication-use and associated disease in the UK Biobank.” Nature Communications 10(1):1891 (2019)
Allele A
OR 0.05
p 1.0e-8
N 204,378
Major Consortium StudyLarge GWAS
European

Diuretic use measurement

Wu Y et al. “Genome-wide association study of medication-use and associated disease in the UK Biobank.” Nature Communications 10(1):1891 (2019)
Allele G
OR 0.05
p 2.0e-10
N 229,086
Major Consortium StudyLarge GWAS
European

Beta blocking agent use measurement

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 0.04
p 1.0e-8
N 402,750
Large GWAS
multi-ancestry

Agents acting on the renin-angiotensin system use measurement

Wu Y et al. “Genome-wide association study of medication-use and associated disease in the UK Biobank.” Nature Communications 10(1):1891 (2019)
Allele G
OR 0.03
p 4.0e-8
N 237,530
Major Consortium StudyLarge GWAS
European

pulse pressure measurement

Keaton JM et al. “Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits.” Nature Genetics 56(5):778-791 (2024)
Allele A
OR 0.09
p 4.0e-8
N 1,028,980
Large GWAS
multi-ancestry

mean arterial pressure

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 0.01
p 1.0e-10
N 506,365
Large GWAS
multi-ancestry
Takeuchi F et al. “Interethnic analyses of blood pressure loci in populations of East Asian and European descent.” Nature Communications 9(1):5052 (2018)
Allele A
OR 0.25
p 1.0e-8
N 130,777
Large GWAS
multi-ancestry
Pozarickij A et al. “Causal relevance of different blood pressure traits on risk of cardiovascular diseases: GWAS and Mendelian randomisation in 100,000 Chinese adults.” Nature Communications 15(1):6265 (2024)
Allele A
OR 0.48
p 5.0e-13
N 100,453
Large GWAS
East Asian
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Research that mentions this SNP (1)

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Single nucleotide polymorphisms in transcription factor genes associated with susceptibility to oral cancer
AssociationN=1,000Hetal Damani Shah et al.(2020)· Journal of Cellular Biochemistry

Case-control study of 500 oral cancer patients and 500 healthy tobacco users from India identifying 5 SNPs in transcription factor genes associated with increased oral cancer risk: rs2051526 (ETV6, OR=1.98), rs6021247 (NFATC2, OR=2.77), rs3757769 (SND1, OR=2.09), rs7085532 (TCF7L2, OR=12.16), and rs7778413 (SND1, OR=34.60). Coinheritance of rs6021247 GG and rs7778413 CC genotypes showed dramatic increased risk (OR=49.94).

Traits studied:Oral cancer susceptibilitySquamous cell carcinoma of the oral cavity
PubMedDOIMetascience Observatory

About NFATC2

This gene is a member of the nuclear factor of activated T cells (NFAT) family. The product of this gene is a DNA-binding protein with a REL-homology region (RHR) and an NFAT-homology region (NHR). This protein is present in the cytosol and only translocates to the nucleus upon T cell receptor (TCR) stimulation, where it becomes a member of the nuclear factors of activated T cells transcription complex. This complex plays a central role in inducing gene transcription during the immune response. Alternate transcriptional splice variants encoding different isoforms have been characterized. [provided by RefSeq, Apr 2012]

View all NFATC2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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