rs514293

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0333 (9956/29820,GnomAD)
T=0372 (10846/29118,TOPMED)
T=0374 (1871/5008,1000G)
T=0183 (705/3854,ALSPAC)
T=0183 (678/3708,TWINSUK)
chr6:108703075 (GRCh38.p7) (6q21)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.108703075C>T
GRCh37.p13 chr 6NC_000006.11:g.109024278C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.351T=0.649
1000GenomesAmericanSub694C=0.840T=0.160
1000GenomesEast AsianSub1008C=0.728T=0.272
1000GenomesEuropeSub1006C=0.775T=0.225
1000GenomesGlobalStudy-wide5008C=0.626T=0.374
1000GenomesSouth AsianSub978C=0.590T=0.410
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.817T=0.183
The Genome Aggregation DatabaseAfricanSub8702C=0.408T=0.592
The Genome Aggregation DatabaseAmericanSub838C=0.850T=0.150
The Genome Aggregation DatabaseEast AsianSub1612C=0.746T=0.254
The Genome Aggregation DatabaseEuropeSub18366C=0.771T=0.228
The Genome Aggregation DatabaseGlobalStudy-wide29820C=0.666T=0.333
The Genome Aggregation DatabaseOtherSub302C=0.760T=0.240
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.627T=0.372
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.817T=0.183
PMID Title Author Journal
23953852Genome-wide association studies of maximum number of drinks.Pan YJ Psychiatr Res

P-Value

SNP ID p-value Traits Study
rs5142939.9E-05alcohol consumption23953852

eQTL of rs514293 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 rs514293 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 )
chr6108974699108974749E067-49529
chr6108974852108974908E067-49370
chr6108975061108975186E067-49092
chr6108975190108976001E067-48277
chr6108976069108976187E067-48091
chr6108976320108976389E067-47889
chr6108976935108977082E067-47196
chr6108977107108977992E067-46286
chr6108978017108978325E067-45953
chr6108982628108982998E067-41280
chr6108989161108989681E067-34597
chr6108991298108991370E067-32908
chr6108992045108992166E067-32112
chr6108992211108992283E067-31995
chr6108992438108992572E067-31706
chr6108992644108992698E067-31580
chr6108993041108993091E067-31187
chr6108993096108993239E067-31039
chr6108993960108994054E067-30224
chr6108994902108995133E067-29145
chr6108995383108995470E067-28808
chr6108995674108995855E067-28423
chr6108996410108996473E067-27805
chr6108996576108996740E067-27538
chr6108996895108997188E067-27090
chr6108997191108997398E067-26880
chr6108997679108997760E067-26518
chr6108997907108998086E067-26192
chr6108998266108998306E067-25972
chr6108998650108998731E067-25547
chr6108998787108998873E067-25405
chr6108998998108999052E067-25226
chr6108999317108999409E067-24869
chr6109000853109000893E067-23385
chr6109011542109012015E067-12263
chr6109018731109018871E067-5407
chr6109065303109066188E06741025
chr6109066238109066643E06741960
chr6109073355109073604E06749077
chr6109073682109073801E06749404
chr6109073995109074194E06749717
chr6108974699108974749E068-49529
chr6108974852108974908E068-49370
chr6108975061108975186E068-49092
chr6108975190108976001E068-48277
chr6108976069108976187E068-48091
chr6108976320108976389E068-47889
chr6108976935108977082E068-47196
chr6108977107108977992E068-46286
chr6108978017108978325E068-45953
chr6108982628108982998E068-41280
chr6108983051108983109E068-41169
chr6108989161108989681E068-34597
chr6108991298108991370E068-32908
chr6108992045108992166E068-32112
chr6108992211108992283E068-31995
chr6108992438108992572E068-31706
chr6108992644108992698E068-31580
chr6108993041108993091E068-31187
chr6108993096108993239E068-31039
chr6108993960108994054E068-30224
chr6108994902108995133E068-29145
chr6108995383108995470E068-28808
chr6108995674108995855E068-28423
chr6108996410108996473E068-27805
chr6108996576108996740E068-27538
chr6108996895108997188E068-27090
chr6108997191108997398E068-26880
chr6108997679108997760E068-26518
chr6108997907108998086E068-26192
chr6108998266108998306E068-25972
chr6108998650108998731E068-25547
chr6108998787108998873E068-25405
chr6109000853109000893E068-23385
chr6109006006109006522E068-17756
chr6109010001109010063E068-14215
chr6109010201109011356E068-12922
chr6109011542109012015E068-12263
chr6109018731109018871E068-5407
chr6109018935109019096E068-5182
chr6109019170109019239E068-5039
chr6109019288109019346E068-4932
chr6109028632109028829E0684354
chr6109028861109028919E0684583
chr6109029374109029445E0685096
chr6109035194109035937E06810916
chr6109042481109042804E06818203
chr6109042963109043013E06818685
chr6109064930109065041E06840652
chr6109065303109066188E06841025
chr6109066238109066643E06841960
chr6109073205109073284E06848927
chr6109073355109073604E06849077
chr6109073682109073801E06849404
chr6109073995109074194E06849717
chr6108974699108974749E069-49529
chr6108974852108974908E069-49370
chr6108975061108975186E069-49092
chr6108975190108976001E069-48277
chr6108976069108976187E069-48091
chr6108976320108976389E069-47889
chr6108976935108977082E069-47196
chr6108977107108977992E069-46286
chr6108978017108978325E069-45953
chr6108978501108978552E069-45726
chr6108983051108983109E069-41169
chr6108983306108983412E069-40866
chr6108988045108988462E069-35816
chr6108989161108989681E069-34597
chr6108991298108991370E069-32908
chr6108992045108992166E069-32112
chr6108992211108992283E069-31995
chr6108992438108992572E069-31706
chr6108992644108992698E069-31580
chr6108993041108993091E069-31187
chr6108993096108993239E069-31039
chr6108993960108994054E069-30224
chr6108994902108995133E069-29145
chr6108995383108995470E069-28808
chr6108995674108995855E069-28423
chr6108996410108996473E069-27805
chr6108996576108996740E069-27538
chr6108996895108997188E069-27090
chr6108997191108997398E069-26880
chr6108997679108997760E069-26518
chr6108997907108998086E069-26192
chr6108998266108998306E069-25972
chr6108998650108998731E069-25547
chr6108998787108998873E069-25405
chr6108998998108999052E069-25226
chr6108999317108999409E069-24869
chr6109001650109001834E069-22444
chr6109002175109002229E069-22049
chr6109010201109011356E069-12922
chr6109011542109012015E069-12263
chr6109042481109042804E06918203
chr6109064930109065041E06940652
chr6109065303109066188E06941025
chr6109066238109066643E06941960
chr6109073355109073604E06949077
chr6109073682109073801E06949404
chr6109073995109074194E06949717
chr6108975061108975186E070-49092
chr6108975190108976001E070-48277
chr6108976320108976389E070-47889
chr6108986203108986316E070-37962
chr6108986750108986996E070-37282
chr6108992211108992283E070-31995
chr6108992438108992572E070-31706
chr6108992644108992698E070-31580
chr6108993041108993091E070-31187
chr6108993096108993239E070-31039
chr6109020556109021277E070-3001
chr6109064930109065041E07040652
chr6109065303109066188E07041025
chr6109066238109066643E07041960
chr6109067372109067457E07043094
chr6109073205109073284E07048927
chr6109073355109073604E07049077
chr6109073682109073801E07049404
chr6109073995109074194E07049717
chr6108974699108974749E071-49529
chr6108974852108974908E071-49370
chr6108975061108975186E071-49092
chr6108975190108976001E071-48277
chr6108976069108976187E071-48091
chr6108976320108976389E071-47889
chr6108976935108977082E071-47196
chr6108977107108977992E071-46286
chr6108978017108978325E071-45953
chr6108981575108981717E071-42561
chr6108982628108982998E071-41280
chr6108983051108983109E071-41169
chr6108983306108983412E071-40866
chr6108988045108988462E071-35816
chr6108989161108989681E071-34597
chr6108992045108992166E071-32112
chr6108992211108992283E071-31995
chr6108992438108992572E071-31706
chr6108992644108992698E071-31580
chr6108993041108993091E071-31187
chr6108993096108993239E071-31039
chr6108993960108994054E071-30224
chr6108994902108995133E071-29145
chr6108995383108995470E071-28808
chr6108995674108995855E071-28423
chr6108996410108996473E071-27805
chr6108996576108996740E071-27538
chr6108996895108997188E071-27090
chr6108997191108997398E071-26880
chr6108997679108997760E071-26518
chr6108997907108998086E071-26192
chr6108998266108998306E071-25972
chr6108998650108998731E071-25547
chr6108998787108998873E071-25405
chr6108998998108999052E071-25226
chr6108999317108999409E071-24869
chr6108999453108999899E071-24379
chr6109000853109000893E071-23385
chr6109001650109001834E071-22444
chr6109007267109007399E071-16879
chr6109007466109007540E071-16738
chr6109010201109011356E071-12922
chr6109011542109012015E071-12263
chr6109018935109019096E071-5182
chr6109028632109028829E0714354
chr6109028861109028919E0714583
chr6109029374109029445E0715096
chr6109042270109042397E07117992
chr6109042481109042804E07118203
chr6109042963109043013E07118685
chr6109064930109065041E07140652
chr6109073205109073284E07148927
chr6109073355109073604E07149077
chr6109073682109073801E07149404
chr6109073995109074194E07149717
chr6108974699108974749E072-49529
chr6108974852108974908E072-49370
chr6108975061108975186E072-49092
chr6108975190108976001E072-48277
chr6108976069108976187E072-48091
chr6108976320108976389E072-47889
chr6108976935108977082E072-47196
chr6108977107108977992E072-46286
chr6108978017108978325E072-45953
chr6108982628108982998E072-41280
chr6108983051108983109E072-41169
chr6108983306108983412E072-40866
chr6108989161108989681E072-34597
chr6108992045108992166E072-32112
chr6108992211108992283E072-31995
chr6108992438108992572E072-31706
chr6108992644108992698E072-31580
chr6108993041108993091E072-31187
chr6108993096108993239E072-31039
chr6108993960108994054E072-30224
chr6108994902108995133E072-29145
chr6108995383108995470E072-28808
chr6108995674108995855E072-28423
chr6108996410108996473E072-27805
chr6108996576108996740E072-27538
chr6108996895108997188E072-27090
chr6108997191108997398E072-26880
chr6108997679108997760E072-26518
chr6108997907108998086E072-26192
chr6108998266108998306E072-25972
chr6108998650108998731E072-25547
chr6108998787108998873E072-25405
chr6109001650109001834E072-22444
chr6109002175109002229E072-22049
chr6109010001109010063E072-14215
chr6109010201109011356E072-12922
chr6109011542109012015E072-12263
chr6109064930109065041E07240652
chr6109065303109066188E07241025
chr6109066238109066643E07241960
chr6109073355109073604E07249077
chr6109073682109073801E07249404
chr6109073995109074194E07249717
chr6108974699108974749E073-49529
chr6108974852108974908E073-49370
chr6108975061108975186E073-49092
chr6108975190108976001E073-48277
chr6108976069108976187E073-48091
chr6108976320108976389E073-47889
chr6108976935108977082E073-47196
chr6108977107108977992E073-46286
chr6108978017108978325E073-45953
chr6108988045108988462E073-35816
chr6108989161108989681E073-34597
chr6108991298108991370E073-32908
chr6108992045108992166E073-32112
chr6108992211108992283E073-31995
chr6108992438108992572E073-31706
chr6108992644108992698E073-31580
chr6108993041108993091E073-31187
chr6108993096108993239E073-31039
chr6108993960108994054E073-30224
chr6108994902108995133E073-29145
chr6108995383108995470E073-28808
chr6108995674108995855E073-28423
chr6108996410108996473E073-27805
chr6108996576108996740E073-27538
chr6108996895108997188E073-27090
chr6108997191108997398E073-26880
chr6108997679108997760E073-26518
chr6108997907108998086E073-26192
chr6108998266108998306E073-25972
chr6108998650108998731E073-25547
chr6108998787108998873E073-25405
chr6108998998108999052E073-25226
chr6108999317108999409E073-24869
chr6109000853109000893E073-23385
chr6109011542109012015E073-12263
chr6109018731109018871E073-5407
chr6109018935109019096E073-5182
chr6109028632109028829E0734354
chr6109066238109066643E07341960
chr6109073205109073284E07348927
chr6109073355109073604E07349077
chr6109073682109073801E07349404
chr6109073995109074194E07349717
chr6108974699108974749E074-49529
chr6108974852108974908E074-49370
chr6108975061108975186E074-49092
chr6108975190108976001E074-48277
chr6108976069108976187E074-48091
chr6108976320108976389E074-47889
chr6108976935108977082E074-47196
chr6108977107108977992E074-46286
chr6108978017108978325E074-45953
chr6108978501108978552E074-45726
chr6108978920108979070E074-45208
chr6108982628108982998E074-41280
chr6108983051108983109E074-41169
chr6108983306108983412E074-40866
chr6108988045108988462E074-35816
chr6108989161108989681E074-34597
chr6108990427108990477E074-33801
chr6108991298108991370E074-32908
chr6108992045108992166E074-32112
chr6108992211108992283E074-31995
chr6108992438108992572E074-31706
chr6108992644108992698E074-31580
chr6108993041108993091E074-31187
chr6108993096108993239E074-31039
chr6108994902108995133E074-29145
chr6108995383108995470E074-28808
chr6108995674108995855E074-28423
chr6108996410108996473E074-27805
chr6108996576108996740E074-27538
chr6108996895108997188E074-27090
chr6108997191108997398E074-26880
chr6108997679108997760E074-26518
chr6108997907108998086E074-26192
chr6108998266108998306E074-25972
chr6108998650108998731E074-25547
chr6108998787108998873E074-25405
chr6108998998108999052E074-25226
chr6108999317108999409E074-24869
chr6108999453108999899E074-24379
chr6109000853109000893E074-23385
chr6109010201109011356E074-12922
chr6109011542109012015E074-12263
chr6109028632109028829E0744354
chr6109035194109035937E07410916
chr6109051862109052525E07427584
chr6109052579109052653E07428301
chr6109064930109065041E07440652
chr6109065303109066188E07441025
chr6109073355109073604E07449077
chr6109073682109073801E07449404
chr6109073995109074194E07449717
chr6109066238109066643E08141960
chr6109073995109074194E08149717
chr6109066238109066643E08241960
chr6109073205109073284E08248927
chr6109073355109073604E08249077
chr6109073682109073801E08249404
chr6109073995109074194E08249717