rs1448130

Homo sapiens
G>A
None
Check p-value
SNV (Single Nucleotide Variation)
A=0239 (7180/29946,GnomAD)
A=0232 (6781/29118,TOPMED)
A=0374 (1874/5008,1000G)
A=0215 (827/3854,ALSPAC)
A=0225 (833/3708,TWINSUK)
chr11:121944715 (GRCh38.p7) (11q24.1)
AD
GWASdb2
1   publication(s)
See rs on genome
105 Enhancers around
9 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.121944715G>A
GRCh37.p13 chr 11NC_000011.9:g.121815423G>A

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.793A=0.207
1000GenomesAmericanSub694G=0.600A=0.400
1000GenomesEast AsianSub1008G=0.390A=0.610
1000GenomesEuropeSub1006G=0.767A=0.233
1000GenomesGlobalStudy-wide5008G=0.626A=0.374
1000GenomesSouth AsianSub978G=0.510A=0.490
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.785A=0.215
The Genome Aggregation DatabaseAfricanSub8720G=0.794A=0.206
The Genome Aggregation DatabaseAmericanSub834G=0.530A=0.470
The Genome Aggregation DatabaseEast AsianSub1616G=0.367A=0.633
The Genome Aggregation DatabaseEuropeSub18474G=0.788A=0.211
The Genome Aggregation DatabaseGlobalStudy-wide29946G=0.760A=0.239
The Genome Aggregation DatabaseOtherSub302G=0.810A=0.190
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.767A=0.232
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.775A=0.225
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs14481300.00079alcohol dependence20201924

eQTL of rs1448130 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 rs1448130 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 )
chr11121837506121837556E06722083
chr11121837619121837835E06722196
chr11121855834121856027E06740411
chr11121856091121856147E06740668
chr11121856366121856416E06740943
chr11121831982121832293E06816559
chr11121832307121832535E06816884
chr11121832666121832951E06817243
chr11121833073121833231E06817650
chr11121833305121833355E06817882
chr11121837506121837556E06822083
chr11121855834121856027E06840411
chr11121856091121856147E06840668
chr11121856366121856416E06840943
chr11121829347121830722E06913924
chr11121832307121832535E06916884
chr11121832666121832951E06917243
chr11121833073121833231E06917650
chr11121837506121837556E06922083
chr11121837619121837835E06922196
chr11121837969121838521E06922546
chr11121838534121838617E06923111
chr11121855834121856027E06940411
chr11121856091121856147E06940668
chr11121856366121856416E06940943
chr11121770276121770330E070-45093
chr11121770427121770576E070-44847
chr11121797807121797847E070-17576
chr11121797897121798715E070-16708
chr11121798901121798955E070-16468
chr11121798999121799073E070-16350
chr11121799247121799336E070-16087
chr11121829232121829307E07013809
chr11121829347121830722E07013924
chr11121835208121835703E07019785
chr11121837619121837835E07022196
chr11121837969121838521E07022546
chr11121838534121838617E07023111
chr11121775748121775966E071-39457
chr11121778365121778415E071-37008
chr11121801817121801976E071-13447
chr11121802081121802155E071-13268
chr11121802196121802322E071-13101
chr11121802482121802538E071-12885
chr11121831982121832293E07116559
chr11121832307121832535E07116884
chr11121832666121832951E07117243
chr11121833073121833231E07117650
chr11121833305121833355E07117882
chr11121833503121833559E07118080
chr11121835900121836399E07120477
chr11121837218121837268E07121795
chr11121837506121837556E07122083
chr11121839307121839364E07123884
chr11121839498121839612E07124075
chr11121855834121856027E07140411
chr11121856091121856147E07140668
chr11121856366121856416E07140943
chr11121801448121801564E072-13859
chr11121801571121801617E072-13806
chr11121802482121802538E072-12885
chr11121802551121803046E072-12377
chr11121832666121832951E07217243
chr11121833073121833231E07217650
chr11121833305121833355E07217882
chr11121833503121833559E07218080
chr11121838534121838617E07223111
chr11121855834121856027E07240411
chr11121856091121856147E07240668
chr11121799247121799336E073-16087
chr11121839307121839364E07323884
chr11121823965121824015E0748542
chr11121831982121832293E07416559
chr11121832307121832535E07416884
chr11121832666121832951E07417243
chr11121833073121833231E07417650
chr11121839307121839364E07423884
chr11121855834121856027E07440411
chr11121856091121856147E07440668
chr11121856366121856416E07440943
chr11121794953121795368E081-20055
chr11121797721121797775E081-17648
chr11121797807121797847E081-17576
chr11121797897121798715E081-16708
chr11121798901121798955E081-16468
chr11121798999121799073E081-16350
chr11121799247121799336E081-16087
chr11121801448121801564E081-13859
chr11121801571121801617E081-13806
chr11121820860121820910E0815437
chr11121820957121821202E0815534
chr11121821419121821491E0815996
chr11121821498121821552E0816075
chr11121821554121821612E0816131
chr11121829347121830722E08113924
chr11121835208121835703E08119785
chr11121794707121794773E082-20650
chr11121797897121798715E082-16708
chr11121798901121798955E082-16468
chr11121798999121799073E082-16350
chr11121799247121799336E082-16087
chr11121803313121803723E082-11700
chr11121835018121835068E08219595
chr11121835131121835181E08219708
chr11121835208121835703E08219785










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr11121799418121801279E067-14144
chr11121799418121801279E068-14144
chr11121799418121801279E069-14144
chr11121799418121801279E070-14144
chr11121799418121801279E071-14144
chr11121799418121801279E072-14144
chr11121799418121801279E073-14144
chr11121799418121801279E074-14144
chr11121799418121801279E082-14144