rs2268974

Homo sapiens
A>G
ACTN1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0330 (9876/29906,GnomAD)
G=0351 (10221/29118,TOPMED)
G=0349 (1749/5008,1000G)
G=0256 (985/3854,ALSPAC)
G=0255 (947/3708,TWINSUK)
chr14:68956447 (GRCh38.p7) (14q24.1)
AD
GWASdb2
1   publication(s)
See rs on genome
287 Enhancers around
9 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.68956447A>G
GRCh37.p13 chr 14NC_000014.8:g.69423164A>G
ACTN1 RefSeqGene LRG_886

Gene: ACTN1, actinin alpha 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ACTN1 transcript variant 2NM_001102.3:c.N/AIntron Variant
ACTN1 transcript variant 1NM_001130004.1:c.N/AIntron Variant
ACTN1 transcript variant 3NM_001130005.1:c.N/AIntron Variant
ACTN1 transcript variant X3XM_017021722.1:c.N/AIntron Variant
ACTN1 transcript variant X4XM_017021723.1:c.N/AIntron Variant
ACTN1 transcript variant X5XM_017021725.1:c.N/AIntron Variant
ACTN1 transcript variant X6XM_017021726.1:c.N/AIntron Variant
ACTN1 transcript variant X11XM_017021727.1:c.N/AIntron Variant
ACTN1 transcript variant X12XM_017021728.1:c.N/AIntron Variant
ACTN1 transcript variant X7XM_011537265.2:c.N/AGenic Upstream Transcript Variant
ACTN1 transcript variant X8XM_011537266.2:c.N/AGenic Upstream Transcript Variant
ACTN1 transcript variant X9XM_011537267.2:c.N/AGenic Upstream Transcript Variant
ACTN1 transcript variant X10XM_011537268.2:c.N/AGenic Upstream Transcript Variant
ACTN1 transcript variant X1XM_017021720.1:c.N/AGenic Upstream Transcript Variant
ACTN1 transcript variant X2XM_017021721.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.449G=0.551
1000GenomesAmericanSub694A=0.630G=0.370
1000GenomesEast AsianSub1008A=0.695G=0.305
1000GenomesEuropeSub1006A=0.757G=0.243
1000GenomesGlobalStudy-wide5008A=0.651G=0.349
1000GenomesSouth AsianSub978A=0.780G=0.220
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.744G=0.256
The Genome Aggregation DatabaseAfricanSub8688A=0.491G=0.509
The Genome Aggregation DatabaseAmericanSub838A=0.740G=0.260
The Genome Aggregation DatabaseEast AsianSub1616A=0.700G=0.300
The Genome Aggregation DatabaseEuropeSub18462A=0.750G=0.249
The Genome Aggregation DatabaseGlobalStudy-wide29906A=0.669G=0.330
The Genome Aggregation DatabaseOtherSub302A=0.550G=0.450
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.649G=0.351
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.745G=0.255
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs22689740.00055alcohol consumption (maxi-drinks)24277619

eQTL of rs2268974 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 rs2268974 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 )
chr146939539769395650E067-27514
chr146939566469395731E067-27433
chr146939587669395970E067-27194
chr146939789769398108E067-25056
chr146939820869398393E067-24771
chr146940372569403918E067-19246
chr146940974869410086E067-13078
chr146941023769410297E067-12867
chr146941034669410903E067-12261
chr146941095769411202E067-11962
chr146941134669411496E067-11668
chr146941151669411613E067-11551
chr146941164269411713E067-11451
chr146941178569411913E067-11251
chr146941532569416256E067-6908
chr146941633669416588E067-6576
chr146942197669422820E067-344
chr146942282769422886E067-278
chr146942302469423077E067-87
chr146942321669423284E06752
chr146942814169428403E0674977
chr146942841569429985E0675251
chr146943079469431731E0677630
chr146943174569431844E0678581
chr146943186369431927E0678699
chr146943196369432740E0678799
chr146943309869433368E0679934
chr146943337569434192E06710211
chr146943425569435404E06711091
chr146943542769435467E06712263
chr146943547569435733E06712311
chr146943585769435956E06712693
chr146944153569441826E06718371
chr146944183269441993E06718668
chr146944203869442093E06718874
chr146944210169442910E06718937
chr146944291969443899E06719755
chr146937516269375298E068-47866
chr146937548069375885E068-47279
chr146937598369376048E068-47116
chr146938323069383307E068-39857
chr146938335169383620E068-39544
chr146938369369383747E068-39417
chr146938963369389917E068-33247
chr146939765869397805E068-25359
chr146939789769398108E068-25056
chr146939820869398393E068-24771
chr146940116069401241E068-21923
chr146940144969401539E068-21625
chr146940159369401723E068-21441
chr146940180169401881E068-21283
chr146940212269402172E068-20992
chr146940238069403721E068-19443
chr146940372569403918E068-19246
chr146940402069404161E068-19003
chr146940419069404303E068-18861
chr146940431469407656E068-15508
chr146940804069409746E068-13418
chr146940974869410086E068-13078
chr146941023769410297E068-12867
chr146941034669410903E068-12261
chr146941095769411202E068-11962
chr146941134669411496E068-11668
chr146941151669411613E068-11551
chr146941164269411713E068-11451
chr146941178569411913E068-11251
chr146941199069413140E068-10024
chr146941316369413230E068-9934
chr146941326369413431E068-9733
chr146941359769413666E068-9498
chr146941371469413784E068-9380
chr146941385069413996E068-9168
chr146941402069414171E068-8993
chr146941419569414341E068-8823
chr146941437469415035E068-8129
chr146941532569416256E068-6908
chr146941633669416588E068-6576
chr146941752769420334E068-2830
chr146942138669421472E068-1692
chr146942163369421721E068-1443
chr146942185169421959E068-1205
chr146942197669422820E068-344
chr146942282769422886E068-278
chr146942461469424811E0681450
chr146942506169425134E0681897
chr146942525669425771E0682092
chr146942579669426082E0682632
chr146942616069426286E0682996
chr146942814169428403E0684977
chr146942841569429985E0685251
chr146943002869430078E0686864
chr146943014269430405E0686978
chr146943079469431731E0687630
chr146943174569431844E0688581
chr146943186369431927E0688699
chr146943196369432740E0688799
chr146943309869433368E0689934
chr146943337569434192E06810211
chr146943425569435404E06811091
chr146943542769435467E06812263
chr146943547569435733E06812311
chr146943585769435956E06812693
chr146943598969437547E06812825
chr146943757869438047E06814414
chr146944137069441508E06818206
chr146944153569441826E06818371
chr146944183269441993E06818668
chr146944203869442093E06818874
chr146937516269375298E069-47866
chr146937822469379029E069-44135
chr146940238069403721E069-19443
chr146940372569403918E069-19246
chr146940431469407656E069-15508
chr146940974869410086E069-13078
chr146941023769410297E069-12867
chr146941034669410903E069-12261
chr146941095769411202E069-11962
chr146941134669411496E069-11668
chr146941151669411613E069-11551
chr146941164269411713E069-11451
chr146941178569411913E069-11251
chr146941199069413140E069-10024
chr146941419569414341E069-8823
chr146941437469415035E069-8129
chr146941532569416256E069-6908
chr146941752769420334E069-2830
chr146942163369421721E069-1443
chr146942185169421959E069-1205
chr146942197669422820E069-344
chr146942282769422886E069-278
chr146942447569424598E0691311
chr146942525669425771E0692092
chr146942579669426082E0692632
chr146943174569431844E0698581
chr146943186369431927E0698699
chr146943196369432740E0698799
chr146943337569434192E06910211
chr146943547569435733E06912311
chr146943585769435956E06912693
chr146944291969443899E06919755
chr146941095769411202E070-11962
chr146941134669411496E070-11668
chr146941151669411613E070-11551
chr146941164269411713E070-11451
chr146941178569411913E070-11251
chr146942841569429985E0705251
chr146947140269472977E07048238
chr146938870369389613E071-33551
chr146938963369389917E071-33247
chr146940372569403918E071-19246
chr146940402069404161E071-19003
chr146940419069404303E071-18861
chr146940431469407656E071-15508
chr146940774069407842E071-15322
chr146940788869407986E071-15178
chr146940804069409746E071-13418
chr146941034669410903E071-12261
chr146941095769411202E071-11962
chr146941134669411496E071-11668
chr146941151669411613E071-11551
chr146941164269411713E071-11451
chr146941178569411913E071-11251
chr146941419569414341E071-8823
chr146941437469415035E071-8129
chr146941532569416256E071-6908
chr146941633669416588E071-6576
chr146941662769416706E071-6458
chr146941752769420334E071-2830
chr146942197669422820E071-344
chr146942282769422886E071-278
chr146942302469423077E071-87
chr146942425869424387E0711094
chr146942447569424598E0711311
chr146942461469424811E0711450
chr146942506169425134E0711897
chr146942525669425771E0712092
chr146942579669426082E0712632
chr146943079469431731E0717630
chr146943174569431844E0718581
chr146943186369431927E0718699
chr146943196369432740E0718799
chr146943425569435404E07111091
chr146943542769435467E07112263
chr146943547569435733E07112311
chr146943585769435956E07112693
chr146944203869442093E07118874
chr146944210169442910E07118937
chr146944291969443899E07119755
chr146940238069403721E072-19443
chr146940372569403918E072-19246
chr146940402069404161E072-19003
chr146940419069404303E072-18861
chr146940431469407656E072-15508
chr146940804069409746E072-13418
chr146940974869410086E072-13078
chr146941023769410297E072-12867
chr146941034669410903E072-12261
chr146941095769411202E072-11962
chr146941134669411496E072-11668
chr146941151669411613E072-11551
chr146941164269411713E072-11451
chr146941178569411913E072-11251
chr146941419569414341E072-8823
chr146941437469415035E072-8129
chr146941532569416256E072-6908
chr146941752769420334E072-2830
chr146942197669422820E072-344
chr146942282769422886E072-278
chr146942425869424387E0721094
chr146942447569424598E0721311
chr146942579669426082E0722632
chr146942616069426286E0722996
chr146942814169428403E0724977
chr146942841569429985E0725251
chr146943079469431731E0727630
chr146943174569431844E0728581
chr146943186369431927E0728699
chr146943196369432740E0728799
chr146944210169442910E07218937
chr146944291969443899E07219755
chr146947140269472977E07248238
chr146937984769380036E073-43128
chr146938015269380211E073-42953
chr146938036769380417E073-42747
chr146938050069380586E073-42578
chr146938963369389917E073-33247
chr146938995869390008E073-33156
chr146939017269390241E073-32923
chr146940238069403721E073-19443
chr146940372569403918E073-19246
chr146940402069404161E073-19003
chr146940419069404303E073-18861
chr146940431469407656E073-15508
chr146940804069409746E073-13418
chr146940974869410086E073-13078
chr146941023769410297E073-12867
chr146941034669410903E073-12261
chr146941095769411202E073-11962
chr146941134669411496E073-11668
chr146941151669411613E073-11551
chr146941164269411713E073-11451
chr146941178569411913E073-11251
chr146941199069413140E073-10024
chr146941359769413666E073-9498
chr146941402069414171E073-8993
chr146941419569414341E073-8823
chr146941437469415035E073-8129
chr146941532569416256E073-6908
chr146941633669416588E073-6576
chr146941752769420334E073-2830
chr146942185169421959E073-1205
chr146942197669422820E073-344
chr146942841569429985E0735251
chr146943002869430078E0736864
chr146943014269430405E0736978
chr146943048369430533E0737319
chr146943079469431731E0737630
chr146943174569431844E0738581
chr146943186369431927E0738699
chr146943196369432740E0738799
chr146943337569434192E07310211
chr146943425569435404E07311091
chr146943542769435467E07312263
chr146943547569435733E07312311
chr146943585769435956E07312693
chr146943598969437547E07312825
chr146944137069441508E07318206
chr146944153569441826E07318371
chr146944183269441993E07318668
chr146944203869442093E07318874
chr146944210169442910E07318937
chr146941034669410903E074-12261
chr146941095769411202E074-11962
chr146941134669411496E074-11668
chr146941151669411613E074-11551
chr146941532569416256E074-6908
chr146942506169425134E0741897
chr146942525669425771E0742092
chr146942579669426082E0742632
chr146943196369432740E0748799
chr146940431469407656E081-15508
chr146943598969437547E08112825
chr146944291969443899E08119755
chr146944754869447597E08124384
chr146941095769411202E082-11962
chr146944210169442910E08218937
chr146944291969443899E08219755










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr146944392269447342E06720758
chr146944392269447342E06820758
chr146944392269447342E06920758
chr146944392269447342E07020758
chr146944392269447342E07120758
chr146944392269447342E07220758
chr146944392269447342E07320758
chr146944392269447342E07420758
chr146944392269447342E08220758