SNP Detail Info-rs7572507

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 2	NC_000002.12:g.110733154C>T
GRCh37.p13 chr 2	NC_000002.11:g.111490731C>T

Gene: ACOXL, acyl-CoA oxidase-like(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ACOXL transcript	NM_001142807.1:c.	N/A	Intron Variant
ACOXL transcript variant X1	XM_011511404.2:c.	N/A	Intron Variant
ACOXL transcript variant X2	XM_011511405.2:c.	N/A	Intron Variant
ACOXL transcript variant X5	XM_011511409.1:c.	N/A	Intron Variant
ACOXL transcript variant X8	XM_011511411.2:c.	N/A	Intron Variant
ACOXL transcript variant X8	XM_011511413.1:c.	N/A	Intron Variant
ACOXL transcript variant X10	XM_011511414.2:c.	N/A	Intron Variant
ACOXL transcript variant X10	XM_011511415.2:c.	N/A	Intron Variant
ACOXL transcript variant X11	XM_011511416.2:c.	N/A	Intron Variant
ACOXL transcript variant X12	XM_011511419.2:c.	N/A	Intron Variant
ACOXL transcript variant X13	XM_011511420.2:c.	N/A	Intron Variant
ACOXL transcript variant X15	XM_011511421.2:c.	N/A	Intron Variant
ACOXL transcript variant X14	XM_011511422.1:c.	N/A	Intron Variant
ACOXL transcript variant X16	XM_011511423.1:c.	N/A	Intron Variant
ACOXL transcript variant X17	XM_011511427.2:c.	N/A	Intron Variant
ACOXL transcript variant X19	XM_011511428.2:c.	N/A	Intron Variant
ACOXL transcript variant X19	XM_011511429.2:c.	N/A	Intron Variant
ACOXL transcript variant X3	XM_011511432.2:c.	N/A	Intron Variant
ACOXL transcript variant X22	XM_017004431.1:c.	N/A	Intron Variant
ACOXL transcript variant X23	XM_017004432.1:c.	N/A	Intron Variant
ACOXL transcript variant X4	XM_011511406.2:c.	N/A	Genic Upstream Transcript Variant
ACOXL transcript variant X5	XM_011511407.2:c.	N/A	Genic Upstream Transcript Variant
ACOXL transcript variant X27	XM_011511434.2:c.	N/A	Genic Upstream Transcript Variant
ACOXL transcript variant X24	XM_017004433.1:c.	N/A	Genic Upstream Transcript Variant
ACOXL transcript variant X26	XM_017004434.1:c.	N/A	Genic Upstream Transcript Variant
ACOXL transcript variant X21	XR_001738822.1:n.	N/A	Intron Variant
ACOXL transcript variant X25	XR_001738823.1:n.	N/A	Intron Variant
ACOXL transcript variant X6	XR_922958.1:n.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.924	T=0.076
1000Genomes	American	Sub	694	C=0.980	T=0.020
1000Genomes	East Asian	Sub	1008	C=1.000	T=0.000
1000Genomes	Europe	Sub	1006	C=0.980	T=0.020
1000Genomes	Global	Study-wide	5008	C=0.971	T=0.029
1000Genomes	South Asian	Sub	978	C=0.990	T=0.010
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.984	T=0.016
The Genome Aggregation Database	African	Sub	8710	C=0.936	T=0.064
The Genome Aggregation Database	American	Sub	838	C=0.980	T=0.020
The Genome Aggregation Database	East Asian	Sub	1622	C=0.998	T=0.002
The Genome Aggregation Database	Europe	Sub	18472	C=0.977	T=0.022
The Genome Aggregation Database	Global	Study-wide	29944	C=0.966	T=0.033
The Genome Aggregation Database	Other	Sub	302	C=1.000	T=0.000
Trans-Omics for Precision Medicine	Global	Study-wide	29116	C=0.963	T=0.037
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.983	T=0.017

PMID	Title	Author	Journal
24277619	ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.	Quillen EE	Am J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID	p-value	Traits	Study
rs7572507	0.000938	alcohol consumption (maxi-drinks)	24277619

eQTL of rs7572507 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 rs7572507 in Fetal Brain

Probe ID	Position	Gene	beta	p-value
There is no meQTL annotation for this SNP

Enhancer Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr2	111506032	111506428	E068	15301
chr2	111527842	111529047	E068	37111
chr2	111530828	111531568	E068	40097
chr2	111459679	111459729	E070	-31002
chr2	111506032	111506428	E070	15301
chr2	111506498	111506721	E070	15767
chr2	111529191	111529718	E070	38460
chr2	111530828	111531568	E070	40097
chr2	111529191	111529718	E071	38460
chr2	111530828	111531568	E074	40097
chr2	111512719	111512826	E081	21988
chr2	111512932	111512972	E081	22201
chr2	111513039	111513359	E081	22308
chr2	111527842	111529047	E081	37111
chr2	111529191	111529718	E081	38460
chr2	111529746	111530302	E081	39015
chr2	111530828	111531568	E081	40097
chr2	111529191	111529718	E082	38460
chr2	111529746	111530302	E082	39015
chr2	111530828	111531568	E082	40097

rs7572507

Genomic Coordinates

Gene: ACOXL, acyl-CoA oxidase-like(plus strand)

Population Frequency

P-Value

eQTL of rs7572507 in Brain tissues (GTEx Analysis Release V7)

meQTL of rs7572507 in Fetal Brain

Genomic View

Chromatin Interaction

Enhancer Annotation (GRCh37.p13)

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr2	111490397	111490466	E070	-265
chr2	111490397	111490466	E071	-265
chr2	111490577	111490909	E071	0
chr2	111490915	111490985	E071	184
chr2	111489704	111490366	E082	-365
chr2	111490397	111490466	E082	-265
chr2	111490577	111490909	E082	0