rs11572505

Homo sapiens
T>C
ESRRG : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0056 (1703/29980,GnomAD)
C=0050 (1481/29116,TOPMED)
C=0060 (301/5008,1000G)
C=0054 (209/3854,ALSPAC)
C=0063 (233/3708,TWINSUK)
chr1:216920702 (GRCh38.p7) (1q41)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.216920702T>C
GRCh37.p13 chr 1NC_000001.10:g.217094044T>C
ESRRG RefSeqGeneNG_029784.1:g.222054A>G

Gene: ESRRG, estrogen related receptor gamma(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ESRRG transcript variant 4NM_001134285.2:c.N/AIntron Variant
ESRRG transcript variant 6NM_001243505.1:c.N/AIntron Variant
ESRRG transcript variant 7NM_001243506.1:c.N/AIntron Variant
ESRRG transcript variant 8NM_001243507.1:c.N/AIntron Variant
ESRRG transcript variant 9NM_001243509.1:c.N/AIntron Variant
ESRRG transcript variant 10NM_001243510.2:c.N/AIntron Variant
ESRRG transcript variant 11NM_001243511.2:c.N/AIntron Variant
ESRRG transcript variant 12NM_001243512.1:c.N/AIntron Variant
ESRRG transcript variant 13NM_001243513.1:c.N/AIntron Variant
ESRRG transcript variant 2NM_206594.2:c.N/AIntron Variant
ESRRG transcript variant 3NM_206595.2:c.N/AIntron Variant
ESRRG transcript variant 14NM_001243514.1:c.N/AGenic Upstream Transcript Variant
ESRRG transcript variant 15NM_001243515.1:c.N/AGenic Upstream Transcript Variant
ESRRG transcript variant 16NM_001243518.1:c.N/AGenic Upstream Transcript Variant
ESRRG transcript variant 17NM_001243519.1:c.N/AGenic Upstream Transcript Variant
ESRRG transcript variant 1NM_001438.3:c.N/AGenic Upstream Transcript Variant
ESRRG transcript variant X2XM_011509265.2:c.N/AIntron Variant
ESRRG transcript variant X7XM_011509266.2:c.N/AIntron Variant
ESRRG transcript variant X23XM_011509274.1:c.N/AIntron Variant
ESRRG transcript variant X29XM_011509275.1:c.N/AIntron Variant
ESRRG transcript variant X28XM_011509277.1:c.N/AIntron Variant
ESRRG transcript variant X30XM_011509278.1:c.N/AIntron Variant
ESRRG transcript variant X1XM_017000621.1:c.N/AIntron Variant
ESRRG transcript variant X3XM_017000622.1:c.N/AIntron Variant
ESRRG transcript variant X4XM_017000623.1:c.N/AIntron Variant
ESRRG transcript variant X5XM_017000624.1:c.N/AIntron Variant
ESRRG transcript variant X6XM_017000625.1:c.N/AIntron Variant
ESRRG transcript variant X18XM_017000631.1:c.N/AIntron Variant
ESRRG transcript variant X19XM_017000632.1:c.N/AIntron Variant
ESRRG transcript variant X21XM_017000633.1:c.N/AIntron Variant
ESRRG transcript variant X21XM_017000634.1:c.N/AIntron Variant
ESRRG transcript variant X25XM_017000636.1:c.N/AIntron Variant
ESRRG transcript variant X26XM_017000637.1:c.N/AIntron Variant
ESRRG transcript variant X32XM_017000638.1:c.N/AIntron Variant
ESRRG transcript variant X36XM_017000639.1:c.N/AIntron Variant
ESRRG transcript variant X34XM_017000640.1:c.N/AIntron Variant
ESRRG transcript variant X36XM_017000642.1:c.N/AIntron Variant
ESRRG transcript variant X37XM_017000643.1:c.N/AIntron Variant
ESRRG transcript variant X38XM_017000644.1:c.N/AIntron Variant
ESRRG transcript variant X39XM_017000645.1:c.N/AIntron Variant
ESRRG transcript variant X40XM_017000646.1:c.N/AIntron Variant
ESRRG transcript variant X41XM_017000647.1:c.N/AIntron Variant
ESRRG transcript variant X42XM_017000648.1:c.N/AIntron Variant
ESRRG transcript variant X43XM_017000649.1:c.N/AIntron Variant
ESRRG transcript variant X8XM_011509267.1:c.N/AGenic Upstream Transcript Variant
ESRRG transcript variant X9XM_011509268.2:c.N/AGenic Upstream Transcript Variant
ESRRG transcript variant X10XM_011509269.2:c.N/AGenic Upstream Transcript Variant
ESRRG transcript variant X11XM_011509270.1:c.N/AGenic Upstream Transcript Variant
ESRRG transcript variant X15XM_011509271.2:c.N/AGenic Upstream Transcript Variant
ESRRG transcript variant X22XM_011509276.1:c.N/AGenic Upstream Transcript Variant
ESRRG transcript variant X27XM_011509279.1:c.N/AGenic Upstream Transcript Variant
ESRRG transcript variant X31XM_011509280.2:c.N/AGenic Upstream Transcript Variant
ESRRG transcript variant X11XM_017000626.1:c.N/AGenic Upstream Transcript Variant
ESRRG transcript variant X12XM_017000627.1:c.N/AGenic Upstream Transcript Variant
ESRRG transcript variant X13XM_017000628.1:c.N/AGenic Upstream Transcript Variant
ESRRG transcript variant X15XM_017000629.1:c.N/AGenic Upstream Transcript Variant
ESRRG transcript variant X14XM_017000630.1:c.N/AGenic Upstream Transcript Variant
ESRRG transcript variant X24XM_017000635.1:c.N/AGenic Upstream Transcript Variant
ESRRG transcript variant X37XM_017000641.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.982C=0.018
1000GenomesAmericanSub694T=0.940C=0.060
1000GenomesEast AsianSub1008T=0.931C=0.069
1000GenomesEuropeSub1006T=0.930C=0.070
1000GenomesGlobalStudy-wide5008T=0.940C=0.060
1000GenomesSouth AsianSub978T=0.900C=0.100
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.946C=0.054
The Genome Aggregation DatabaseAfricanSub8730T=0.979C=0.021
The Genome Aggregation DatabaseAmericanSub838T=0.960C=0.040
The Genome Aggregation DatabaseEast AsianSub1616T=0.949C=0.051
The Genome Aggregation DatabaseEuropeSub18494T=0.926C=0.074
The Genome Aggregation DatabaseGlobalStudy-wide29980T=0.943C=0.056
The Genome Aggregation DatabaseOtherSub302T=0.870C=0.130
Trans-Omics for Precision MedicineGlobalStudy-wide29116T=0.949C=0.050
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.937C=0.063
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs115725050.00011alcohol dependence20201924

eQTL of rs11572505 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 rs11572505 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 )
chr1217100848217100934E0686804
chr1217118352217118422E06824308
chr1217119109217119309E06825065
chr1217119536217119616E06825492
chr1217083547217083667E069-10377
chr1217118352217118422E07024308
chr1217118489217118649E07024445
chr1217118676217118785E07024632
chr1217119109217119309E07025065
chr1217097084217097153E0713040
chr1217083547217083667E072-10377
chr1217100127217100275E0726083
chr1217119536217119616E07325492
chr1217083547217083667E074-10377
chr1217100127217100275E0746083
chr1217100335217100810E0746291
chr1217100848217100934E0746804
chr1217063648217063803E081-30241
chr1217064274217064577E081-29467
chr1217064632217064687E081-29357
chr1217064840217064910E081-29134
chr1217074179217074403E081-19641
chr1217074451217074505E081-19539
chr1217119536217119616E08125492
chr1217126261217126436E08132217
chr1217100127217100275E0826083
chr1217100335217100810E0826291