rs2300877

Homo sapiens
G>T
ACTN1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0149 (4486/29950,GnomAD)
T=0124 (3623/29118,TOPMED)
T=0276 (1383/5008,1000G)
T=0129 (497/3854,ALSPAC)
T=0120 (446/3708,TWINSUK)
chr14:68939123 (GRCh38.p7) (14q24.1)
AD
GWASdb2
1   publication(s)
See rs on genome
308 Enhancers around
9 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.68939123G>T
GRCh37.p13 chr 14NC_000014.8:g.69405840G>T
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
1000GenomesAfricanSub1322G=0.946T=0.054
1000GenomesAmericanSub694G=0.840T=0.160
1000GenomesEast AsianSub1008G=0.362T=0.638
1000GenomesEuropeSub1006G=0.891T=0.109
1000GenomesGlobalStudy-wide5008G=0.724T=0.276
1000GenomesSouth AsianSub978G=0.540T=0.460
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.871T=0.129
The Genome Aggregation DatabaseAfricanSub8720G=0.933T=0.067
The Genome Aggregation DatabaseAmericanSub838G=0.820T=0.180
The Genome Aggregation DatabaseEast AsianSub1616G=0.336T=0.664
The Genome Aggregation DatabaseEuropeSub18474G=0.856T=0.143
The Genome Aggregation DatabaseGlobalStudy-wide29950G=0.850T=0.149
The Genome Aggregation DatabaseOtherSub302G=0.940T=0.060
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.875T=0.124
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.880T=0.120
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
rs23008770.000847alcohol consumption (maxi-drinks)24277619

eQTL of rs2300877 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 rs2300877 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 )
chr146937199169372045E067-33795
chr146937219369372437E067-33403
chr146939539769395650E067-10190
chr146939566469395731E067-10109
chr146939587669395970E067-9870
chr146939789769398108E067-7732
chr146939820869398393E067-7447
chr146940372569403918E067-1922
chr146940974869410086E0673908
chr146941023769410297E0674397
chr146941034669410903E0674506
chr146941095769411202E0675117
chr146941134669411496E0675506
chr146941151669411613E0675676
chr146941164269411713E0675802
chr146941178569411913E0675945
chr146941532569416256E0679485
chr146941633669416588E06710496
chr146942197669422820E06716136
chr146942282769422886E06716987
chr146942302469423077E06717184
chr146942321669423284E06717376
chr146942814169428403E06722301
chr146942841569429985E06722575
chr146943079469431731E06724954
chr146943174569431844E06725905
chr146943186369431927E06726023
chr146943196369432740E06726123
chr146943309869433368E06727258
chr146943337569434192E06727535
chr146943425569435404E06728415
chr146943542769435467E06729587
chr146943547569435733E06729635
chr146943585769435956E06730017
chr146944153569441826E06735695
chr146944183269441993E06735992
chr146944203869442093E06736198
chr146944210169442910E06736261
chr146944291969443899E06737079
chr146936516869365922E068-39918
chr146936594369366483E068-39357
chr146936654769366605E068-39235
chr146936661869366700E068-39140
chr146936671469366764E068-39076
chr146936683969366923E068-38917
chr146937516269375298E068-30542
chr146937548069375885E068-29955
chr146937598369376048E068-29792
chr146938323069383307E068-22533
chr146938335169383620E068-22220
chr146938369369383747E068-22093
chr146938963369389917E068-15923
chr146939765869397805E068-8035
chr146939789769398108E068-7732
chr146939820869398393E068-7447
chr146940116069401241E068-4599
chr146940144969401539E068-4301
chr146940159369401723E068-4117
chr146940180169401881E068-3959
chr146940212269402172E068-3668
chr146940238069403721E068-2119
chr146940372569403918E068-1922
chr146940402069404161E068-1679
chr146940419069404303E068-1537
chr146940431469407656E0680
chr146940804069409746E0682200
chr146940974869410086E0683908
chr146941023769410297E0684397
chr146941034669410903E0684506
chr146941095769411202E0685117
chr146941134669411496E0685506
chr146941151669411613E0685676
chr146941164269411713E0685802
chr146941178569411913E0685945
chr146941199069413140E0686150
chr146941316369413230E0687323
chr146941326369413431E0687423
chr146941359769413666E0687757
chr146941371469413784E0687874
chr146941385069413996E0688010
chr146941402069414171E0688180
chr146941419569414341E0688355
chr146941437469415035E0688534
chr146941532569416256E0689485
chr146941633669416588E06810496
chr146941752769420334E06811687
chr146942138669421472E06815546
chr146942163369421721E06815793
chr146942185169421959E06816011
chr146942197669422820E06816136
chr146942282769422886E06816987
chr146942461469424811E06818774
chr146942506169425134E06819221
chr146942525669425771E06819416
chr146942579669426082E06819956
chr146942616069426286E06820320
chr146942814169428403E06822301
chr146942841569429985E06822575
chr146943002869430078E06824188
chr146943014269430405E06824302
chr146943079469431731E06824954
chr146943174569431844E06825905
chr146943186369431927E06826023
chr146943196369432740E06826123
chr146943309869433368E06827258
chr146943337569434192E06827535
chr146943425569435404E06828415
chr146943542769435467E06829587
chr146943547569435733E06829635
chr146943585769435956E06830017
chr146943598969437547E06830149
chr146943757869438047E06831738
chr146944137069441508E06835530
chr146944153569441826E06835695
chr146944183269441993E06835992
chr146944203869442093E06836198
chr146937171869371827E069-34013
chr146937199169372045E069-33795
chr146937219369372437E069-33403
chr146937516269375298E069-30542
chr146937822469379029E069-26811
chr146940238069403721E069-2119
chr146940372569403918E069-1922
chr146940431469407656E0690
chr146940974869410086E0693908
chr146941023769410297E0694397
chr146941034669410903E0694506
chr146941095769411202E0695117
chr146941134669411496E0695506
chr146941151669411613E0695676
chr146941164269411713E0695802
chr146941178569411913E0695945
chr146941199069413140E0696150
chr146941419569414341E0698355
chr146941437469415035E0698534
chr146941532569416256E0699485
chr146941752769420334E06911687
chr146942163369421721E06915793
chr146942185169421959E06916011
chr146942197669422820E06916136
chr146942282769422886E06916987
chr146942447569424598E06918635
chr146942525669425771E06919416
chr146942579669426082E06919956
chr146943174569431844E06925905
chr146943186369431927E06926023
chr146943196369432740E06926123
chr146943337569434192E06927535
chr146943547569435733E06929635
chr146943585769435956E06930017
chr146944291969443899E06937079
chr146941095769411202E0705117
chr146941134669411496E0705506
chr146941151669411613E0705676
chr146941164269411713E0705802
chr146941178569411913E0705945
chr146942841569429985E07022575
chr146938870369389613E071-16227
chr146938963369389917E071-15923
chr146940372569403918E071-1922
chr146940402069404161E071-1679
chr146940419069404303E071-1537
chr146940431469407656E0710
chr146940774069407842E0711900
chr146940788869407986E0712048
chr146940804069409746E0712200
chr146941034669410903E0714506
chr146941095769411202E0715117
chr146941134669411496E0715506
chr146941151669411613E0715676
chr146941164269411713E0715802
chr146941178569411913E0715945
chr146941419569414341E0718355
chr146941437469415035E0718534
chr146941532569416256E0719485
chr146941633669416588E07110496
chr146941662769416706E07110787
chr146941752769420334E07111687
chr146942197669422820E07116136
chr146942282769422886E07116987
chr146942302469423077E07117184
chr146942425869424387E07118418
chr146942447569424598E07118635
chr146942461469424811E07118774
chr146942506169425134E07119221
chr146942525669425771E07119416
chr146942579669426082E07119956
chr146943079469431731E07124954
chr146943174569431844E07125905
chr146943186369431927E07126023
chr146943196369432740E07126123
chr146943425569435404E07128415
chr146943542769435467E07129587
chr146943547569435733E07129635
chr146943585769435956E07130017
chr146944203869442093E07136198
chr146944210169442910E07136261
chr146944291969443899E07137079
chr146936594369366483E072-39357
chr146936654769366605E072-39235
chr146936661869366700E072-39140
chr146936671469366764E072-39076
chr146936683969366923E072-38917
chr146936704869367117E072-38723
chr146940238069403721E072-2119
chr146940372569403918E072-1922
chr146940402069404161E072-1679
chr146940419069404303E072-1537
chr146940431469407656E0720
chr146940804069409746E0722200
chr146940974869410086E0723908
chr146941023769410297E0724397
chr146941034669410903E0724506
chr146941095769411202E0725117
chr146941134669411496E0725506
chr146941151669411613E0725676
chr146941164269411713E0725802
chr146941178569411913E0725945
chr146941419569414341E0728355
chr146941437469415035E0728534
chr146941532569416256E0729485
chr146941752769420334E07211687
chr146942197669422820E07216136
chr146942282769422886E07216987
chr146942425869424387E07218418
chr146942447569424598E07218635
chr146942579669426082E07219956
chr146942616069426286E07220320
chr146942814169428403E07222301
chr146942841569429985E07222575
chr146943079469431731E07224954
chr146943174569431844E07225905
chr146943186369431927E07226023
chr146943196369432740E07226123
chr146944210169442910E07236261
chr146944291969443899E07237079
chr146936042169360471E073-45369
chr146936052869360671E073-45169
chr146936683969366923E073-38917
chr146936860869368682E073-37158
chr146936882669368902E073-36938
chr146936899269369076E073-36764
chr146937984769380036E073-25804
chr146938015269380211E073-25629
chr146938036769380417E073-25423
chr146938050069380586E073-25254
chr146938963369389917E073-15923
chr146938995869390008E073-15832
chr146939017269390241E073-15599
chr146940238069403721E073-2119
chr146940372569403918E073-1922
chr146940402069404161E073-1679
chr146940419069404303E073-1537
chr146940431469407656E0730
chr146940804069409746E0732200
chr146940974869410086E0733908
chr146941023769410297E0734397
chr146941034669410903E0734506
chr146941095769411202E0735117
chr146941134669411496E0735506
chr146941151669411613E0735676
chr146941164269411713E0735802
chr146941178569411913E0735945
chr146941199069413140E0736150
chr146941359769413666E0737757
chr146941402069414171E0738180
chr146941419569414341E0738355
chr146941437469415035E0738534
chr146941532569416256E0739485
chr146941633669416588E07310496
chr146941752769420334E07311687
chr146942185169421959E07316011
chr146942197669422820E07316136
chr146942841569429985E07322575
chr146943002869430078E07324188
chr146943014269430405E07324302
chr146943048369430533E07324643
chr146943079469431731E07324954
chr146943174569431844E07325905
chr146943186369431927E07326023
chr146943196369432740E07326123
chr146943337569434192E07327535
chr146943425569435404E07328415
chr146943542769435467E07329587
chr146943547569435733E07329635
chr146943585769435956E07330017
chr146943598969437547E07330149
chr146944137069441508E07335530
chr146944153569441826E07335695
chr146944183269441993E07335992
chr146944203869442093E07336198
chr146944210169442910E07336261
chr146941034669410903E0744506
chr146941095769411202E0745117
chr146941134669411496E0745506
chr146941151669411613E0745676
chr146941532569416256E0749485
chr146942506169425134E07419221
chr146942525669425771E07419416
chr146942579669426082E07419956
chr146943196369432740E07426123
chr146940431469407656E0810
chr146943598969437547E08130149
chr146944291969443899E08137079
chr146944754869447597E08141708
chr146941095769411202E0825117
chr146944210169442910E08236261
chr146944291969443899E08237079










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr146944392269447342E06738082
chr146944392269447342E06838082
chr146944392269447342E06938082
chr146944392269447342E07038082
chr146944392269447342E07138082
chr146944392269447342E07238082
chr146944392269447342E07338082
chr146944392269447342E07438082
chr146944392269447342E08238082