rs200848948

Homo sapiens
delA / dupA
None
Check p-value
Indel (Insertion and Deletion)
delA=0303 (1517/5008,1000G)
chr2:53266605-53266620 (GRCh38.p7) (2p16.2)
AD
GWASCatalog
1   publication(s)
See rs on genome
13 Enhancers around
56 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.53266620delA
GRCh38.p7 chr 2NC_000002.12:g.53266620dup
GRCh37.p13 chr 2NC_000002.11:g.53493758delA
GRCh37.p13 chr 2NC_000002.11:g.53493758dup

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322(A)16=0.694delA=0.306
1000GenomesAmericanSub694(A)16=0.740delA=0.260
1000GenomesEast AsianSub1008(A)16=0.482delA=0.518
1000GenomesEuropeSub1006(A)16=0.791delA=0.209
1000GenomesGlobalStudy-wide5008(A)16=0.697delA=0.303
1000GenomesSouth AsianSub978(A)16=0.790delA=0.210
PMID Title Author Journal
29460428Genomewide Association Study of Alcohol Dependence and Related Traits in a Thai Population.Gelernter JAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs2008489484E-07response to alcohol29460428

eQTL of rs200848948 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 rs200848948 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 )
chr2112913901112914095E0697019
chr2112914116112914156E0697234
chr2112914209112914308E0697327
chr2112914333112914535E0697451
chr2112914209112914308E0717327
chr2112906932112906982E07250
chr2112907262112907316E072380
chr2112907360112907495E072478
chr2112914209112914308E0727327
chr2112913901112914095E0747019
chr2112914116112914156E0747234
chr2112914209112914308E0747327
chr2112914333112914535E0747451




Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2112895130112895772E067-11110
chr2112895778112895850E067-11032
chr2112895852112896030E067-10852
chr2112896092112896327E067-10555
chr2112896384112896516E067-10366
chr2112896678112896823E067-10059
chr2112897790112897830E067-9052
chr2112897872112898389E067-8493
chr2112895130112895772E068-11110
chr2112895778112895850E068-11032
chr2112895852112896030E068-10852
chr2112896092112896327E068-10555
chr2112896384112896516E068-10366
chr2112895778112895850E069-11032
chr2112895852112896030E069-10852
chr2112896092112896327E069-10555
chr2112896384112896516E069-10366
chr2112897790112897830E069-9052
chr2112897872112898389E069-8493
chr2112895852112896030E070-10852
chr2112896092112896327E070-10555
chr2112896384112896516E070-10366
chr2112896678112896823E070-10059
chr2112896974112897036E070-9846
chr2112897675112897742E070-9140
chr2112897790112897830E070-9052
chr2112897872112898389E070-8493
chr2112895852112896030E071-10852
chr2112896092112896327E071-10555
chr2112896384112896516E071-10366
chr2112895130112895772E072-11110
chr2112895778112895850E072-11032
chr2112895852112896030E072-10852
chr2112896092112896327E072-10555
chr2112896384112896516E072-10366
chr2112897790112897830E072-9052
chr2112897872112898389E072-8493
chr2112895130112895772E073-11110
chr2112895778112895850E073-11032
chr2112895852112896030E073-10852
chr2112896092112896327E073-10555
chr2112896384112896516E073-10366
chr2112896678112896823E073-10059
chr2112897790112897830E073-9052
chr2112897872112898389E073-8493
chr2112895130112895772E074-11110
chr2112895778112895850E074-11032
chr2112895852112896030E074-10852
chr2112896092112896327E074-10555
chr2112896384112896516E074-10366
chr2112896678112896823E074-10059
chr2112895852112896030E082-10852
chr2112896092112896327E082-10555
chr2112896384112896516E082-10366
chr2112897790112897830E082-9052
chr2112897872112898389E082-8493