rs6902771

Homo sapiens
C>T
ESR1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0459 (13742/29912,GnomAD)
T=0452 (13188/29118,TOPMED)
T=0423 (2119/5008,1000G)
T=0456 (1757/3854,ALSPAC)
T=0453 (1679/3708,TWINSUK)
chr6:151836746 (GRCh38.p7) (6q25.1)
AD
GWASdb2 | GWASCatalog
7   publication(s)
See rs on genome
2 Enhancers around
1 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.151836746C>T
GRCh37.p13 chr 6NC_000006.11:g.152157881C>T
ESR1 RefSeqGeneNG_008493.1:g.151251C>T

Gene: ESR1, estrogen receptor 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
ESR1 transcript variant 1NM_000125.3:c.N/AIntron Variant
ESR1 transcript variant 2NM_001122740.1:c.N/AIntron Variant
ESR1 transcript variant 3NM_001122741.1:c.N/AIntron Variant
ESR1 transcript variant 4NM_001122742.1:c.N/AIntron Variant
ESR1 transcript variant 5NM_001291230.1:c.N/AIntron Variant
ESR1 transcript variant 6NM_001291241.1:c.N/AIntron Variant
ESR1 transcript variant X11XM_006715374.3:c.N/AIntron Variant
ESR1 transcript variant X12XM_006715375.3:c.N/AIntron Variant
ESR1 transcript variant X1XM_011535543.2:c.N/AIntron Variant
ESR1 transcript variant X7XM_011535544.2:c.N/AIntron Variant
ESR1 transcript variant X9XM_011535545.2:c.N/AIntron Variant
ESR1 transcript variant X10XM_011535547.2:c.N/AIntron Variant
ESR1 transcript variant X2XM_017010376.1:c.N/AIntron Variant
ESR1 transcript variant X3XM_017010377.1:c.N/AIntron Variant
ESR1 transcript variant X4XM_017010378.1:c.N/AIntron Variant
ESR1 transcript variant X5XM_017010379.1:c.N/AIntron Variant
ESR1 transcript variant X6XM_017010380.1:c.N/AIntron Variant
ESR1 transcript variant X8XM_017010381.1:c.N/AIntron Variant
ESR1 transcript variant X13XM_017010382.1:c.N/AIntron Variant
ESR1 transcript variant X15XM_011535549.2:c.N/AGenic Upstream Transcript Variant
ESR1 transcript variant X16XM_017010383.1:c.N/AGenic Upstream Transcript Variant
ESR1 transcript variant X14XR_001743222.1:n.N/AIntron Variant
ESR1 transcript variant X15XR_001743223.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.498T=0.502
1000GenomesAmericanSub694C=0.660T=0.340
1000GenomesEast AsianSub1008C=0.599T=0.401
1000GenomesEuropeSub1006C=0.573T=0.427
1000GenomesGlobalStudy-wide5008C=0.577T=0.423
1000GenomesSouth AsianSub978C=0.610T=0.390
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.544T=0.456
The Genome Aggregation DatabaseAfricanSub8692C=0.518T=0.482
The Genome Aggregation DatabaseAmericanSub838C=0.680T=0.320
The Genome Aggregation DatabaseEast AsianSub1614C=0.599T=0.401
The Genome Aggregation DatabaseEuropeSub18466C=0.539T=0.460
The Genome Aggregation DatabaseGlobalStudy-wide29912C=0.540T=0.459
The Genome Aggregation DatabaseOtherSub302C=0.550T=0.450
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.547T=0.452
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.547T=0.453
PMID Title Author Journal
18305958Comprehensive evaluation of the estrogen receptor alpha gene reveals further evidence for association with type 2 diabetes enriched for nephropathy in an African American population.Keene KLHum Genet
22259677Association between ESR1 rs1884051 polymorphism and dietary total energy and plant protein intake on obesity in Korean men.Doo MNutr Res Pract
20615892Inherited variations in AR, ESR1, and ESR2 genes are not associated with prostate cancer aggressiveness or with efficacy of androgen deprivation therapy.Sun TCancer Epidemiol Biomarkers Prev
24149131Candidate gene analysis in israeli soldiers with stress fractures.Yanovich RJ Sports Sci Med
19581569Genome-wide association study of alcohol dependence.Treutlein JArch Gen Psychiatry
18053221Impact of estrogen receptor gene polymorphisms and mRNA levels on obesity and lipolysis--a cohort study.Nilsson MBMC Med Genet
20148360Genetic variation in sex-steroid receptors and synthesizing enzymes and colorectal cancer risk in women.Lin JCancer Causes Control

P-Value

SNP ID p-value Traits Study
rs69027718E-06alcohol dependence19581569

eQTL of rs6902771 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs6902771 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr6152174582152174632E07016701
chr6152174706152174826E07016825

Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr6152127834152130401E072-27480