SNP Detail Info-rs7553212

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.216565446A>G
GRCh38.p7 chr 1	NC_000001.11:g.216565446A>T
GRCh37.p13 chr 1	NC_000001.10:g.216738788A>G
GRCh37.p13 chr 1	NC_000001.10:g.216738788A>T
ESRRG RefSeqGene	NG_029784.1:g.577310T>C
ESRRG RefSeqGene	NG_029784.1:g.577310T>A

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

Molecule type	Change	Amino acid[Codon]	SO Term
ESRRG transcript variant 4	NM_001134285.2:c.	N/A	Intron Variant
ESRRG transcript variant 6	NM_001243505.1:c.	N/A	Intron Variant
ESRRG transcript variant 7	NM_001243506.1:c.	N/A	Intron Variant
ESRRG transcript variant 8	NM_001243507.1:c.	N/A	Intron Variant
ESRRG transcript variant 9	NM_001243509.1:c.	N/A	Intron Variant
ESRRG transcript variant 10	NM_001243510.2:c.	N/A	Intron Variant
ESRRG transcript variant 11	NM_001243511.2:c.	N/A	Intron Variant
ESRRG transcript variant 12	NM_001243512.1:c.	N/A	Intron Variant
ESRRG transcript variant 13	NM_001243513.1:c.	N/A	Intron Variant
ESRRG transcript variant 14	NM_001243514.1:c.	N/A	Intron Variant
ESRRG transcript variant 15	NM_001243515.1:c.	N/A	Intron Variant
ESRRG transcript variant 16	NM_001243518.1:c.	N/A	Intron Variant
ESRRG transcript variant 17	NM_001243519.1:c.	N/A	Intron Variant
ESRRG transcript variant 1	NM_001438.3:c.	N/A	Intron Variant
ESRRG transcript variant 2	NM_206594.2:c.	N/A	Intron Variant
ESRRG transcript variant 3	NM_206595.2:c.	N/A	Intron Variant
ESRRG transcript variant X2	XM_011509265.2:c.	N/A	Intron Variant
ESRRG transcript variant X7	XM_011509266.2:c.	N/A	Intron Variant
ESRRG transcript variant X8	XM_011509267.1:c.	N/A	Intron Variant
ESRRG transcript variant X9	XM_011509268.2:c.	N/A	Intron Variant
ESRRG transcript variant X10	XM_011509269.2:c.	N/A	Intron Variant
ESRRG transcript variant X11	XM_011509270.1:c.	N/A	Intron Variant
ESRRG transcript variant X15	XM_011509271.2:c.	N/A	Intron Variant
ESRRG transcript variant X23	XM_011509274.1:c.	N/A	Intron Variant
ESRRG transcript variant X29	XM_011509275.1:c.	N/A	Intron Variant
ESRRG transcript variant X22	XM_011509276.1:c.	N/A	Intron Variant
ESRRG transcript variant X28	XM_011509277.1:c.	N/A	Intron Variant
ESRRG transcript variant X30	XM_011509278.1:c.	N/A	Intron Variant
ESRRG transcript variant X27	XM_011509279.1:c.	N/A	Intron Variant
ESRRG transcript variant X31	XM_011509280.2:c.	N/A	Intron Variant
ESRRG transcript variant X1	XM_017000621.1:c.	N/A	Intron Variant
ESRRG transcript variant X3	XM_017000622.1:c.	N/A	Intron Variant
ESRRG transcript variant X4	XM_017000623.1:c.	N/A	Intron Variant
ESRRG transcript variant X5	XM_017000624.1:c.	N/A	Intron Variant
ESRRG transcript variant X6	XM_017000625.1:c.	N/A	Intron Variant
ESRRG transcript variant X11	XM_017000626.1:c.	N/A	Intron Variant
ESRRG transcript variant X12	XM_017000627.1:c.	N/A	Intron Variant
ESRRG transcript variant X13	XM_017000628.1:c.	N/A	Intron Variant
ESRRG transcript variant X15	XM_017000629.1:c.	N/A	Intron Variant
ESRRG transcript variant X14	XM_017000630.1:c.	N/A	Intron Variant
ESRRG transcript variant X18	XM_017000631.1:c.	N/A	Intron Variant
ESRRG transcript variant X19	XM_017000632.1:c.	N/A	Intron Variant
ESRRG transcript variant X21	XM_017000633.1:c.	N/A	Intron Variant
ESRRG transcript variant X21	XM_017000634.1:c.	N/A	Intron Variant
ESRRG transcript variant X24	XM_017000635.1:c.	N/A	Intron Variant
ESRRG transcript variant X25	XM_017000636.1:c.	N/A	Intron Variant
ESRRG transcript variant X26	XM_017000637.1:c.	N/A	Intron Variant
ESRRG transcript variant X32	XM_017000638.1:c.	N/A	Intron Variant
ESRRG transcript variant X36	XM_017000639.1:c.	N/A	Intron Variant
ESRRG transcript variant X34	XM_017000640.1:c.	N/A	Intron Variant
ESRRG transcript variant X37	XM_017000641.1:c.	N/A	Intron Variant
ESRRG transcript variant X36	XM_017000642.1:c.	N/A	Intron Variant
ESRRG transcript variant X37	XM_017000643.1:c.	N/A	Intron Variant
ESRRG transcript variant X38	XM_017000644.1:c.	N/A	Intron Variant
ESRRG transcript variant X39	XM_017000645.1:c.	N/A	Intron Variant
ESRRG transcript variant X40	XM_017000646.1:c.	N/A	Intron Variant
ESRRG transcript variant X41	XM_017000647.1:c.	N/A	Intron Variant
ESRRG transcript variant X42	XM_017000648.1:c.	N/A	Intron Variant
ESRRG transcript variant X43	XM_017000649.1:c.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.833	G=0.163
1000Genomes	American	Sub	694	A=0.740	G=0.26,
1000Genomes	East Asian	Sub	1008	A=0.713	G=0.287
1000Genomes	Europe	Sub	1006	A=0.697	G=0.303
1000Genomes	Global	Study-wide	5008	A=0.735	G=0.264
1000Genomes	South Asian	Sub	978	A=0.660	G=0.34,
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.671	G=0.329
The Genome Aggregation Database	African	Sub	8716	A=0.810	T=0.005
The Genome Aggregation Database	American	Sub	838	A=0.650	T=0.00,
The Genome Aggregation Database	East Asian	Sub	1608	A=0.707	T=0.000
The Genome Aggregation Database	Europe	Sub	18466	A=0.690	T=0.000
The Genome Aggregation Database	Global	Study-wide	29930	A=0.724	T=0.001
The Genome Aggregation Database	Other	Sub	302	A=0.650	T=0.00,
Trans-Omics for Precision Medicine	Global	Study-wide	29116	A=0.759	G=0.240
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.672	G=0.328

PMID	Title	Author	Journal
23743675	A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.	Kapoor M	Hum Genet

P-Value

SNP ID	p-value	Traits	Study
rs7553212	7E-06	alcohol consumption	23743675

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

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr1	101781019	101781109	E070	-26121
chr1	101781194	101781435	E070	-25795
chr1	101782521	101782561	E070	-24669
chr1	101805405	101805462	E070	-1768
chr1	101832232	101832312	E070	25002
chr1	101832539	101832611	E070	25309
chr1	101834066	101834116	E070	26836
chr1	101757581	101757703	E071	-49527

rs7553212

Genomic Coordinates

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

Population Frequency

P-Value

eQTL of rs7553212 in Brain tissues (GTEx Analysis Release V7)

meQTL of rs7553212 in Fetal Brain

Genomic View

Chromatin Interaction

Enhancer Annotation (GRCh37.p13)