rs7553212

Homo sapiens
A>G / A>T
ESRRG : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0273 (8197/29930,GnomAD)
G=0240 (7014/29116,TOPMED)
G=0264 (1321/5008,1000G)
G=0329 (1268/3854,ALSPAC)
G=0328 (1218/3708,TWINSUK)
chr1:216565446 (GRCh38.p7) (1q41)
AD
GWASdb2
1   publication(s)
See rs on genome
8 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.216565446A>G
GRCh38.p7 chr 1NC_000001.11:g.216565446A>T
GRCh37.p13 chr 1NC_000001.10:g.216738788A>G
GRCh37.p13 chr 1NC_000001.10:g.216738788A>T
ESRRG RefSeqGeneNG_029784.1:g.577310T>C
ESRRG RefSeqGeneNG_029784.1:g.577310T>A

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 14NM_001243514.1:c.N/AIntron Variant
ESRRG transcript variant 15NM_001243515.1:c.N/AIntron Variant
ESRRG transcript variant 16NM_001243518.1:c.N/AIntron Variant
ESRRG transcript variant 17NM_001243519.1:c.N/AIntron Variant
ESRRG transcript variant 1NM_001438.3: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 X2XM_011509265.2:c.N/AIntron Variant
ESRRG transcript variant X7XM_011509266.2:c.N/AIntron Variant
ESRRG transcript variant X8XM_011509267.1:c.N/AIntron Variant
ESRRG transcript variant X9XM_011509268.2:c.N/AIntron Variant
ESRRG transcript variant X10XM_011509269.2:c.N/AIntron Variant
ESRRG transcript variant X11XM_011509270.1:c.N/AIntron Variant
ESRRG transcript variant X15XM_011509271.2: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 X22XM_011509276.1: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 X27XM_011509279.1:c.N/AIntron Variant
ESRRG transcript variant X31XM_011509280.2: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 X11XM_017000626.1:c.N/AIntron Variant
ESRRG transcript variant X12XM_017000627.1:c.N/AIntron Variant
ESRRG transcript variant X13XM_017000628.1:c.N/AIntron Variant
ESRRG transcript variant X15XM_017000629.1:c.N/AIntron Variant
ESRRG transcript variant X14XM_017000630.1: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 X24XM_017000635.1: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 X37XM_017000641.1: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

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.833G=0.163
1000GenomesAmericanSub694A=0.740G=0.26,
1000GenomesEast AsianSub1008A=0.713G=0.287
1000GenomesEuropeSub1006A=0.697G=0.303
1000GenomesGlobalStudy-wide5008A=0.735G=0.264
1000GenomesSouth AsianSub978A=0.660G=0.34,
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.671G=0.329
The Genome Aggregation DatabaseAfricanSub8716A=0.810T=0.005
The Genome Aggregation DatabaseAmericanSub838A=0.650T=0.00,
The Genome Aggregation DatabaseEast AsianSub1608A=0.707T=0.000
The Genome Aggregation DatabaseEuropeSub18466A=0.690T=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29930A=0.724T=0.001
The Genome Aggregation DatabaseOtherSub302A=0.650T=0.00,
Trans-Omics for Precision MedicineGlobalStudy-wide29116A=0.759G=0.240
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.672G=0.328
PMID Title Author Journal
23743675A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.Kapoor MHum Genet

P-Value

SNP ID p-value Traits Study
rs75532127E-06alcohol consumption23743675

eQTL of rs7553212 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 rs7553212 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 )
chr1101781019101781109E070-26121
chr1101781194101781435E070-25795
chr1101782521101782561E070-24669
chr1101805405101805462E070-1768
chr1101832232101832312E07025002
chr1101832539101832611E07025309
chr1101834066101834116E07026836
chr1101757581101757703E071-49527