rs1348965

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
T==0329 (9864/29946,GnomAD)
T==0308 (8967/29118,TOPMED)
T==0311 (1557/5008,1000G)
T==0343 (1321/3854,ALSPAC)
T==0350 (1297/3708,TWINSUK)
chr11:45642018 (GRCh38.p7) (11p11.2)
AD
GWASdb2
1   publication(s)
See rs on genome
280 Enhancers around
15 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.45642018T>C
GRCh37.p13 chr 11NC_000011.9:g.45663568T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.286C=0.714
1000GenomesAmericanSub694T=0.390C=0.610
1000GenomesEast AsianSub1008T=0.165C=0.835
1000GenomesEuropeSub1006T=0.353C=0.647
1000GenomesGlobalStudy-wide5008T=0.311C=0.689
1000GenomesSouth AsianSub978T=0.400C=0.600
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.343C=0.657
The Genome Aggregation DatabaseAfricanSub8710T=0.279C=0.721
The Genome Aggregation DatabaseAmericanSub838T=0.420C=0.580
The Genome Aggregation DatabaseEast AsianSub1618T=0.173C=0.827
The Genome Aggregation DatabaseEuropeSub18478T=0.361C=0.638
The Genome Aggregation DatabaseGlobalStudy-wide29946T=0.329C=0.670
The Genome Aggregation DatabaseOtherSub302T=0.390C=0.610
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.308C=0.692
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.350C=0.650
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
rs13489650.0005alcohol dependence20201924

eQTL of rs1348965 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 rs1348965 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 )
chr114567360545673763E06710037
chr114567404045674160E06710472
chr114567430645674346E06710738
chr114567439945674654E06710831
chr114567644945676561E06712881
chr114567744145677655E06713873
chr114567962145679730E06716053
chr114567989845679984E06716330
chr114567999945680781E06716431
chr114568080045680906E06717232
chr114568097745681064E06717409
chr114568113345681249E06717565
chr114568137145681617E06717803
chr114568169445681765E06718126
chr114568179845681985E06718230
chr114568210145682161E06718533
chr114568223245682282E06718664
chr114568233745682619E06718769
chr114568265645683345E06719088
chr114568784645688021E06724278
chr114568806345688186E06724495
chr114568826445688405E06724696
chr114568841945688757E06724851
chr114569316845693263E06729600
chr114569333845693751E06729770
chr114569419045694266E06730622
chr114569983145699968E06736263
chr114567580545676005E06812237
chr114567607045676201E06812502
chr114567624945676399E06812681
chr114567644945676561E06812881
chr114567999945680781E06816431
chr114568080045680906E06817232
chr114568097745681064E06817409
chr114568113345681249E06817565
chr114568137145681617E06817803
chr114568169445681765E06818126
chr114568179845681985E06818230
chr114568210145682161E06818533
chr114568223245682282E06818664
chr114568233745682619E06818769
chr114568265645683345E06819088
chr114568340445683713E06819836
chr114568385945684019E06820291
chr114568784645688021E06824278
chr114568806345688186E06824495
chr114568826445688405E06824696
chr114568841945688757E06824851
chr114569286145692943E06829293
chr114569301945693122E06829451
chr114569316845693263E06829600
chr114569333845693751E06829770
chr114567549545675623E06911927
chr114567565645675715E06912088
chr114567580545676005E06912237
chr114567607045676201E06912502
chr114567624945676399E06912681
chr114567644945676561E06912881
chr114567665845677382E06913090
chr114567862945678783E06915061
chr114567901445679242E06915446
chr114567941945679463E06915851
chr114567950845679558E06915940
chr114567962145679730E06916053
chr114567989845679984E06916330
chr114568137145681617E06917803
chr114568169445681765E06918126
chr114568179845681985E06918230
chr114568210145682161E06918533
chr114568223245682282E06918664
chr114568233745682619E06918769
chr114568265645683345E06919088
chr114568385945684019E06920291
chr114568826445688405E06924696
chr114568841945688757E06924851
chr114568889245689023E06925324
chr114569316845693263E06929600
chr114569333845693751E06929770
chr114569419045694266E06930622
chr114570900445709279E06945436
chr114570943345709526E06945865
chr114570954845709598E06945980
chr114570972645710069E06946158
chr114561376645613816E070-49752
chr114561399445614065E070-49503
chr114561419345614576E070-48992
chr114561459845614706E070-48862
chr114561668345616772E070-46796
chr114561694745617024E070-46544
chr114562545345625549E070-38019
chr114562556545625668E070-37900
chr114562572345625993E070-37575
chr114562611645626244E070-37324
chr114562633445626384E070-37184
chr114562765545627810E070-35758
chr114562791545628683E070-34885
chr114567607045676201E07012502
chr114567624945676399E07012681
chr114567644945676561E07012881
chr114567665845677382E07013090
chr114567744145677655E07013873
chr114568080045680906E07017232
chr114568097745681064E07017409
chr114568113345681249E07017565
chr114568137145681617E07017803
chr114568169445681765E07018126
chr114568179845681985E07018230
chr114568210145682161E07018533
chr114568385945684019E07020291
chr114569926145699358E07035693
chr114569942545699820E07035857
chr114569983145699968E07036263
chr114569997245700016E07036404
chr114570943345709526E07045865
chr114570954845709598E07045980
chr114567744145677655E07113873
chr114567962145679730E07116053
chr114567989845679984E07116330
chr114567999945680781E07116431
chr114568080045680906E07117232
chr114568097745681064E07117409
chr114568113345681249E07117565
chr114568137145681617E07117803
chr114568169445681765E07118126
chr114568179845681985E07118230
chr114568210145682161E07118533
chr114568223245682282E07118664
chr114568233745682619E07118769
chr114568265645683345E07119088
chr114568340445683713E07119836
chr114568385945684019E07120291
chr114568784645688021E07124278
chr114568806345688186E07124495
chr114568826445688405E07124696
chr114568841945688757E07124851
chr114568889245689023E07125324
chr114569220645692256E07128638
chr114569234745692387E07128779
chr114569246845692547E07128900
chr114569286145692943E07129293
chr114569301945693122E07129451
chr114569316845693263E07129600
chr114569333845693751E07129770
chr114569419045694266E07130622
chr114567499645675046E07211428
chr114567549545675623E07211927
chr114567565645675715E07212088
chr114567580545676005E07212237
chr114567607045676201E07212502
chr114567624945676399E07212681
chr114567644945676561E07212881
chr114567744145677655E07213873
chr114567862945678783E07215061
chr114567901445679242E07215446
chr114567941945679463E07215851
chr114567950845679558E07215940
chr114567962145679730E07216053
chr114567989845679984E07216330
chr114567999945680781E07216431
chr114568080045680906E07217232
chr114568097745681064E07217409
chr114568113345681249E07217565
chr114568137145681617E07217803
chr114568169445681765E07218126
chr114568179845681985E07218230
chr114568210145682161E07218533
chr114568223245682282E07218664
chr114568233745682619E07218769
chr114568265645683345E07219088
chr114568340445683713E07219836
chr114568385945684019E07220291
chr114568784645688021E07224278
chr114568806345688186E07224495
chr114568826445688405E07224696
chr114568841945688757E07224851
chr114569316845693263E07229600
chr114569333845693751E07229770
chr114566526045665647E0731692
chr114567430645674346E07310738
chr114567439945674654E07310831
chr114567644945676561E07312881
chr114567665845677382E07313090
chr114567744145677655E07313873
chr114567836745678505E07314799
chr114567962145679730E07316053
chr114567989845679984E07316330
chr114567999945680781E07316431
chr114568113345681249E07317565
chr114568137145681617E07317803
chr114568169445681765E07318126
chr114568179845681985E07318230
chr114568210145682161E07318533
chr114568784645688021E07324278
chr114568806345688186E07324495
chr114568826445688405E07324696
chr114568841945688757E07324851
chr114569246845692547E07328900
chr114569286145692943E07329293
chr114569301945693122E07329451
chr114569316845693263E07329600
chr114569333845693751E07329770
chr114567499645675046E07411428
chr114567644945676561E07412881
chr114567665845677382E07413090
chr114567941945679463E07415851
chr114567950845679558E07415940
chr114567962145679730E07416053
chr114567989845679984E07416330
chr114567999945680781E07416431
chr114568080045680906E07417232
chr114568097745681064E07417409
chr114568113345681249E07417565
chr114568137145681617E07417803
chr114568169445681765E07418126
chr114568179845681985E07418230
chr114568210145682161E07418533
chr114568223245682282E07418664
chr114568233745682619E07418769
chr114568265645683345E07419088
chr114568340445683713E07419836
chr114568385945684019E07420291
chr114568784645688021E07424278
chr114568806345688186E07424495
chr114568826445688405E07424696
chr114568841945688757E07424851
chr114569286145692943E07429293
chr114569301945693122E07429451
chr114569316845693263E07429600
chr114569333845693751E07429770
chr114569419045694266E07430622
chr114561376645613816E081-49752
chr114561399445614065E081-49503
chr114561419345614576E081-48992
chr114561459845614706E081-48862
chr114562611645626244E081-37324
chr114562633445626384E081-37184
chr114562674045627004E081-36564
chr114562706245627135E081-36433
chr114562719645627275E081-36293
chr114562734845627398E081-36170
chr114562759645627646E081-35922
chr114562765545627810E081-35758
chr114562791545628683E081-34885
chr114562880745628900E081-34668
chr114567036345670449E0816795
chr114567083145670946E0817263
chr114567096945671027E0817401
chr114567607045676201E08112502
chr114567624945676399E08112681
chr114567644945676561E08112881
chr114567665845677382E08113090
chr114567744145677655E08113873
chr114567999945680781E08116431
chr114568080045680906E08117232
chr114568097745681064E08117409
chr114568113345681249E08117565
chr114568137145681617E08117803
chr114568169445681765E08118126
chr114568179845681985E08118230
chr114568210145682161E08118533
chr114568223245682282E08118664
chr114568233745682619E08118769
chr114568265645683345E08119088
chr114568340445683713E08119836
chr114568385945684019E08120291
chr114568784645688021E08124278
chr114561399445614065E082-49503
chr114561419345614576E082-48992
chr114562791545628683E082-34885
chr114566526045665647E0821692
chr114567665845677382E08213090
chr114567744145677655E08213873
chr114568080045680906E08217232
chr114568097745681064E08217409
chr114568113345681249E08217565
chr114568137145681617E08217803
chr114568169445681765E08218126
chr114568179845681985E08218230
chr114568826445688405E08224696
chr114568841945688757E08224851










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr114568586045686797E06722292
chr114568683045687813E06723262
chr114568586045686797E06822292
chr114568683045687813E06823262
chr114568586045686797E06922292
chr114568683045687813E06923262
chr114568683045687813E07023262
chr114568683045687813E07123262
chr114568586045686797E07222292
chr114568683045687813E07223262
chr114568586045686797E07322292
chr114568683045687813E07323262
chr114568586045686797E07422292
chr114568586045686797E08222292
chr114568683045687813E08223262