rs72737330

Homo sapiens
T>C
ESRRG : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0146 (4382/29970,GnomAD)
C=0122 (3553/29116,TOPMED)
C=0093 (464/5008,1000G)
C=0199 (768/3854,ALSPAC)
C=0209 (774/3708,TWINSUK)
chr1:216600151 (GRCh38.p7) (1q41)
AD
GWASCatalog
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.216600151T>C
GRCh37.p13 chr 1NC_000001.10:g.216773493T>C
ESRRG RefSeqGeneNG_029784.1:g.542605A>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 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
1000GenomesAfricanSub1322T=0.971C=0.029
1000GenomesAmericanSub694T=0.890C=0.110
1000GenomesEast AsianSub1008T=0.999C=0.001
1000GenomesEuropeSub1006T=0.792C=0.208
1000GenomesGlobalStudy-wide5008T=0.907C=0.093
1000GenomesSouth AsianSub978T=0.850C=0.150
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.801C=0.199
The Genome Aggregation DatabaseAfricanSub8734T=0.946C=0.054
The Genome Aggregation DatabaseAmericanSub834T=0.860C=0.140
The Genome Aggregation DatabaseEast AsianSub1620T=0.999C=0.001
The Genome Aggregation DatabaseEuropeSub18482T=0.798C=0.201
The Genome Aggregation DatabaseGlobalStudy-wide29970T=0.853C=0.146
The Genome Aggregation DatabaseOtherSub300T=0.780C=0.220
Trans-Omics for Precision MedicineGlobalStudy-wide29116T=0.878C=0.122
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.791C=0.209
PMID Title Author Journal
29071344Genetic Risk Variants Associated With Comorbid Alcohol Dependence and Major Depression.Zhou HJAMA Psychiatry

P-Value

SNP ID p-value Traits Study
rs727373309E-07alcohol dependence29071344

eQTL of rs72737330 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 rs72737330 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 )
chr1216769252216769302E067-4191
chr1216773307216773758E0680
chr1216773307216773758E0690
chr1216773307216773758E0700
chr1216803388216803438E07029895
chr1216803847216803946E07030354
chr1216804014216804174E07030521
chr1216804550216804600E07031057
chr1216807943216808053E07034450
chr1216808102216808207E07034609
chr1216773307216773758E0710
chr1216773307216773758E0730
chr1216773307216773758E0740
chr1216725198216725272E081-48221
chr1216803847216803946E08130354
chr1216804014216804174E08130521








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1216773940216775098E067447
chr1216775261216775311E0671768
chr1216773940216775098E068447
chr1216773940216775098E069447
chr1216773940216775098E070447
chr1216773940216775098E071447
chr1216775261216775311E0711768
chr1216773940216775098E072447
chr1216775261216775311E0721768
chr1216773940216775098E073447
chr1216773940216775098E074447
chr1216773940216775098E082447