rs7592571

Homo sapiens
C>A / C>T
ALK : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0143 (4286/29946,GnomAD)
A=0198 (994/5008,1000G)
A=0112 (430/3854,ALSPAC)
A=0124 (461/3708,TWINSUK)
chr2:29545028 (GRCh38.p7) (2p23.2)
AD
GWASdb2
1   publication(s)
See rs on genome
45 Enhancers around
7 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.29545028C>A
GRCh38.p7 chr 2NC_000002.12:g.29545028C>T
GRCh37.p13 chr 2NC_000002.11:g.29767894C>A
GRCh37.p13 chr 2NC_000002.11:g.29767894C>T
ALK RefSeqGene LRG_488
ALK RefSeqGene LRG_488

Gene: ALK, anaplastic lymphoma receptor tyrosine kinase(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ALK transcript variant 1NM_004304.4:c.N/AIntron Variant
ALK transcript variant X1XR_001738688.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.886A=0.114
1000GenomesAmericanSub694C=0.760A=0.240
1000GenomesEast AsianSub1008C=0.685A=0.315
1000GenomesEuropeSub1006C=0.876A=0.124
1000GenomesGlobalStudy-wide5008C=0.802A=0.198
1000GenomesSouth AsianSub978C=0.760A=0.240
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.888A=0.112
The Genome Aggregation DatabaseAfricanSub8710C=0.888A=0.112
The Genome Aggregation DatabaseAmericanSub838C=0.760A=0.240
The Genome Aggregation DatabaseEast AsianSub1606C=0.705A=0.295
The Genome Aggregation DatabaseEuropeSub18490C=0.859A=0.140
The Genome Aggregation DatabaseGlobalStudy-wide29946C=0.856A=0.143
The Genome Aggregation DatabaseOtherSub302C=0.860A=0.140
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.876A=0.124
PMID Title Author Journal
21703634A meta-analysis of two genome-wide association studies identifies 3 new loci for alcohol dependence.Wang KSJ Psychiatr Res

P-Value

SNP ID p-value Traits Study
rs75925718.53E-06alcohol dependence21703634

eQTL of rs7592571 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 rs7592571 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 )
chr2212608017212608652E067-10687
chr2212609157212609489E067-9850
chr2212610066212610339E067-9000
chr2212664381212664461E06745042
chr2212664504212665033E06745165
chr2212606856212606972E068-12367
chr2212608017212608652E068-10687
chr2212609157212609489E068-9850
chr2212610066212610339E068-9000
chr2212630964212631027E06811625
chr2212631042212631092E06811703
chr2212631396212631774E06812057
chr2212664381212664461E06845042
chr2212608017212608652E069-10687
chr2212609157212609489E069-9850
chr2212610066212610339E069-9000
chr2212630964212631027E06911625
chr2212631042212631092E06911703
chr2212631396212631774E06912057
chr2212664504212665033E06945165
chr2212616505212616873E070-2466
chr2212627437212627498E0708098
chr2212651229212651411E07031890
chr2212651491212651580E07032152
chr2212667434212667785E07048095
chr2212608017212608652E071-10687
chr2212609157212609489E071-9850
chr2212610066212610339E071-9000
chr2212630964212631027E07111625
chr2212631042212631092E07111703
chr2212631396212631774E07112057
chr2212658474212658699E07139135
chr2212664381212664461E07145042
chr2212664504212665033E07145165
chr2212589767212589936E072-29403
chr2212606856212606972E072-12367
chr2212608017212608652E072-10687
chr2212631396212631774E07212057
chr2212664504212665033E07245165
chr2212608017212608652E074-10687
chr2212609157212609489E074-9850
chr2212630964212631027E07411625
chr2212631042212631092E07411703
chr2212631396212631774E07412057
chr2212664504212665033E07445165







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2212665119212665213E06845780
chr2212665240212665344E06845901
chr2212665119212665213E07145780
chr2212665240212665344E07145901
chr2212665119212665213E07245780
chr2212665240212665344E07245901
chr2212665404212665474E07246065