Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 6 | NC_000006.12:g.151836746C>T |
GRCh37.p13 chr 6 | NC_000006.11:g.152157881C>T |
ESR1 RefSeqGene | NG_008493.1:g.151251C>T |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
ESR1 transcript variant 1 | NM_000125.3:c. | N/A | Intron Variant |
ESR1 transcript variant 2 | NM_001122740.1:c. | N/A | Intron Variant |
ESR1 transcript variant 3 | NM_001122741.1:c. | N/A | Intron Variant |
ESR1 transcript variant 4 | NM_001122742.1:c. | N/A | Intron Variant |
ESR1 transcript variant 5 | NM_001291230.1:c. | N/A | Intron Variant |
ESR1 transcript variant 6 | NM_001291241.1:c. | N/A | Intron Variant |
ESR1 transcript variant X11 | XM_006715374.3:c. | N/A | Intron Variant |
ESR1 transcript variant X12 | XM_006715375.3:c. | N/A | Intron Variant |
ESR1 transcript variant X1 | XM_011535543.2:c. | N/A | Intron Variant |
ESR1 transcript variant X7 | XM_011535544.2:c. | N/A | Intron Variant |
ESR1 transcript variant X9 | XM_011535545.2:c. | N/A | Intron Variant |
ESR1 transcript variant X10 | XM_011535547.2:c. | N/A | Intron Variant |
ESR1 transcript variant X2 | XM_017010376.1:c. | N/A | Intron Variant |
ESR1 transcript variant X3 | XM_017010377.1:c. | N/A | Intron Variant |
ESR1 transcript variant X4 | XM_017010378.1:c. | N/A | Intron Variant |
ESR1 transcript variant X5 | XM_017010379.1:c. | N/A | Intron Variant |
ESR1 transcript variant X6 | XM_017010380.1:c. | N/A | Intron Variant |
ESR1 transcript variant X8 | XM_017010381.1:c. | N/A | Intron Variant |
ESR1 transcript variant X13 | XM_017010382.1:c. | N/A | Intron Variant |
ESR1 transcript variant X15 | XM_011535549.2:c. | N/A | Genic Upstream Transcript Variant |
ESR1 transcript variant X16 | XM_017010383.1:c. | N/A | Genic Upstream Transcript Variant |
ESR1 transcript variant X14 | XR_001743222.1:n. | N/A | Intron Variant |
ESR1 transcript variant X15 | XR_001743223.1:n. | N/A | Intron Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | C=0.498 | T=0.502 |
1000Genomes | American | Sub | 694 | C=0.660 | T=0.340 |
1000Genomes | East Asian | Sub | 1008 | C=0.599 | T=0.401 |
1000Genomes | Europe | Sub | 1006 | C=0.573 | T=0.427 |
1000Genomes | Global | Study-wide | 5008 | C=0.577 | T=0.423 |
1000Genomes | South Asian | Sub | 978 | C=0.610 | T=0.390 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.544 | T=0.456 |
The Genome Aggregation Database | African | Sub | 8692 | C=0.518 | T=0.482 |
The Genome Aggregation Database | American | Sub | 838 | C=0.680 | T=0.320 |
The Genome Aggregation Database | East Asian | Sub | 1614 | C=0.599 | T=0.401 |
The Genome Aggregation Database | Europe | Sub | 18466 | C=0.539 | T=0.460 |
The Genome Aggregation Database | Global | Study-wide | 29912 | C=0.540 | T=0.459 |
The Genome Aggregation Database | Other | Sub | 302 | C=0.550 | T=0.450 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | C=0.547 | T=0.452 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.547 | T=0.453 |
PMID | Title | Author | Journal |
---|---|---|---|
18305958 | Comprehensive 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 KL | Hum Genet |
22259677 | Association between ESR1 rs1884051 polymorphism and dietary total energy and plant protein intake on obesity in Korean men. | Doo M | Nutr Res Pract |
20615892 | Inherited variations in AR, ESR1, and ESR2 genes are not associated with prostate cancer aggressiveness or with efficacy of androgen deprivation therapy. | Sun T | Cancer Epidemiol Biomarkers Prev |
24149131 | Candidate gene analysis in israeli soldiers with stress fractures. | Yanovich R | J Sports Sci Med |
19581569 | Genome-wide association study of alcohol dependence. | Treutlein J | Arch Gen Psychiatry |
18053221 | Impact of estrogen receptor gene polymorphisms and mRNA levels on obesity and lipolysis--a cohort study. | Nilsson M | BMC Med Genet |
20148360 | Genetic variation in sex-steroid receptors and synthesizing enzymes and colorectal cancer risk in women. | Lin J | Cancer Causes Control |
SNP ID | p-value | Traits | Study |
---|---|---|---|
rs6902771 | 8E-06 | alcohol dependence | 19581569 |
Position (v37) | eGene | GeneID | Variant | p-value | TSS | Tissue | |
---|---|---|---|---|---|---|---|
There is no eQTL annotation for this SNP |
Probe ID | Position | Gene | beta | p-value | |||
---|---|---|---|---|---|---|---|
There is no meQTL annotation for this SNP |
There is no significant Hi-C chromatin interaction data for this SNP.
Chromosome | Start | End | Region | Distance ( -/+ : Up/Downstream ) |
---|---|---|---|---|
chr6 | 152174582 | 152174632 | E070 | 16701 |
chr6 | 152174706 | 152174826 | E070 | 16825 |
Chromosome | Start | End | Region | Distance(-/+:Up/Downstream) |
---|---|---|---|---|
chr6 | 152127834 | 152130401 | E072 | -27480 |