rs2725730

Homo sapiens
A>C / A>G
None
Check p-value
SNV (Single Nucleotide Variation)
C=0102 (3069/29950,GnomAD)
C=0117 (3414/29118,TOPMED)
C=0069 (348/5008,1000G)
C=0089 (344/3854,ALSPAC)
C=0094 (348/3708,TWINSUK)
chr8:5724130 (GRCh38.p7) (8p23.2)
AD
GWASdb2
1   publication(s)
See rs on genome
217 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.5724130A>C
GRCh38.p7 chr 8NC_000008.11:g.5724130A>G
GRCh37.p13 chr 8NC_000008.10:g.5581652A>C
GRCh37.p13 chr 8NC_000008.10:g.5581652A>G

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.829C=0.171
1000GenomesAmericanSub694A=0.950C=0.050
1000GenomesEast AsianSub1008A=1.000C=0.000
1000GenomesEuropeSub1006A=0.928C=0.072
1000GenomesGlobalStudy-wide5008A=0.931C=0.069
1000GenomesSouth AsianSub978A=0.980C=0.020
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.911C=0.089
The Genome Aggregation DatabaseAfricanSub8712A=0.843C=0.157
The Genome Aggregation DatabaseAmericanSub838A=0.940C=0.060
The Genome Aggregation DatabaseEast AsianSub1620A=0.999C=0.001
The Genome Aggregation DatabaseEuropeSub18478A=0.912C=0.087
The Genome Aggregation DatabaseGlobalStudy-wide29950A=0.897C=0.102
The Genome Aggregation DatabaseOtherSub302A=0.920C=0.080
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.882C=0.117
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.906C=0.094
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
rs27257300.00026alcohol dependence20201924

eQTL of rs2725730 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 rs2725730 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 )
chr85276540452765496E067-3068
chr85276555452765648E067-2916
chr85276571452765792E067-2772
chr85276581352765924E067-2640
chr85276595452765990E067-2574
chr85276626752766383E067-2181
chr85277131852772336E0672754
chr85279471652794766E06726152
chr85279635552796807E06727791
chr85279681952797616E06728255
chr85279778952798436E06729225
chr85280301552803057E06734451
chr85280314152803211E06734577
chr85280322452803555E06734660
chr85280645652806506E06737892
chr85280652852806715E06737964
chr85280686352807003E06738299
chr85275893052758980E068-9584
chr85275909952759178E068-9386
chr85276540452765496E068-3068
chr85276555452765648E068-2916
chr85276571452765792E068-2772
chr85276581352765924E068-2640
chr85276595452765990E068-2574
chr85276626752766383E068-2181
chr85276681952766869E068-1695
chr85276950852769748E068944
chr85277131852772336E0682754
chr85277483252774888E0686268
chr85278256852782935E06814004
chr85278313452784083E06814570
chr85279471652794766E06826152
chr85279498052795030E06826416
chr85279504352795123E06826479
chr85279516452795238E06826600
chr85279627452796346E06827710
chr85279635552796807E06827791
chr85279778952798436E06829225
chr85279860152798741E06830037
chr85280129952801351E06832735
chr85280141552801574E06832851
chr85280161352801817E06833049
chr85280190852801974E06833344
chr85280204652802108E06833482
chr85280314152803211E06834577
chr85280322452803555E06834660
chr85280645652806506E06837892
chr85280652852806715E06837964
chr85280686352807003E06838299
chr85280702552807114E06838461
chr85280713552807210E06838571
chr85280739352807455E06838829
chr85280752752807915E06838963
chr85280941652809472E06840852
chr85273309452733144E069-35420
chr85276366252764045E069-4519
chr85277131852772336E0692754
chr85277275152772801E0694187
chr85277288152772931E0694317
chr85278313452784083E06914570
chr85279627452796346E06927710
chr85279635552796807E06927791
chr85279681952797616E06928255
chr85279778952798436E06929225
chr85280098752801179E06932423
chr85280129952801351E06932735
chr85280141552801574E06932851
chr85280161352801817E06933049
chr85280190852801974E06933344
chr85280204652802108E06933482
chr85280227852802338E06933714
chr85280249152802541E06933927
chr85280289352802997E06934329
chr85280301552803057E06934451
chr85280314152803211E06934577
chr85280322452803555E06934660
chr85280645652806506E06937892
chr85280652852806715E06937964
chr85280686352807003E06938299
chr85280702552807114E06938461
chr85280713552807210E06938571
chr85280739352807455E06938829
chr85280905352809093E06940489
chr85280910252809173E06940538
chr85280924752809312E06940683
chr85280941652809472E06940852
chr85273535252735406E070-33158
chr85273543952735602E070-32962
chr85279627452796346E07027710
chr85279635552796807E07027791
chr85279681952797616E07028255
chr85279778952798436E07029225
chr85280301552803057E07034451
chr85280314152803211E07034577
chr85280322452803555E07034660
chr85280383352804081E07035269
chr85280645652806506E07037892
chr85280652852806715E07037964
chr85280686352807003E07038299
chr85280702552807114E07038461
chr85280713552807210E07038571
chr85280739352807455E07038829
chr85280752752807915E07038963
chr85276540452765496E071-3068
chr85276555452765648E071-2916
chr85276571452765792E071-2772
chr85276581352765924E071-2640
chr85276595452765990E071-2574
chr85276626752766383E071-2181
chr85277131852772336E0712754
chr85277275152772801E0714187
chr85277288152772931E0714317
chr85278256852782935E07114004
chr85278313452784083E07114570
chr85279627452796346E07127710
chr85279635552796807E07127791
chr85279681952797616E07128255
chr85279778952798436E07129225
chr85280141552801574E07132851
chr85280161352801817E07133049
chr85280190852801974E07133344
chr85280204652802108E07133482
chr85280227852802338E07133714
chr85280249152802541E07133927
chr85280289352802997E07134329
chr85280301552803057E07134451
chr85280314152803211E07134577
chr85280322452803555E07134660
chr85280645652806506E07137892
chr85280652852806715E07137964
chr85280686352807003E07138299
chr85280702552807114E07138461
chr85280713552807210E07138571
chr85280739352807455E07138829
chr85280752752807915E07138963
chr85280924752809312E07140683
chr85280941652809472E07140852
chr85276366252764045E072-4519
chr85276540452765496E072-3068
chr85276555452765648E072-2916
chr85276571452765792E072-2772
chr85276581352765924E072-2640
chr85276595452765990E072-2574
chr85276626752766383E072-2181
chr85277131852772336E0722754
chr85279627452796346E07227710
chr85279635552796807E07227791
chr85279681952797616E07228255
chr85279778952798436E07229225
chr85279860152798741E07230037
chr85280141552801574E07232851
chr85280161352801817E07233049
chr85276540452765496E073-3068
chr85276555452765648E073-2916
chr85276571452765792E073-2772
chr85276581352765924E073-2640
chr85276595452765990E073-2574
chr85276626752766383E073-2181
chr85277131852772336E0732754
chr85277275152772801E0734187
chr85277288152772931E0734317
chr85279627452796346E07327710
chr85279635552796807E07327791
chr85279681952797616E07328255
chr85279778952798436E07329225
chr85280645652806506E07337892
chr85280713552807210E07338571
chr85280739352807455E07338829
chr85280752752807915E07338963
chr85280905352809093E07340489
chr85280910252809173E07340538
chr85280924752809312E07340683
chr85280941652809472E07340852
chr85281368452813826E07345120
chr85281408452814281E07345520
chr85281433352814387E07345769
chr85276350252763590E074-4974
chr85276555452765648E074-2916
chr85276571452765792E074-2772
chr85276581352765924E074-2640
chr85276595452765990E074-2574
chr85276626752766383E074-2181
chr85277131852772336E0742754
chr85277275152772801E0744187
chr85278256852782935E07414004
chr85278313452784083E07414570
chr85279627452796346E07427710
chr85279635552796807E07427791
chr85279681952797616E07428255
chr85279778952798436E07429225
chr85280141552801574E07432851
chr85280161352801817E07433049
chr85280301552803057E07434451
chr85280314152803211E07434577
chr85280322452803555E07434660
chr85280383352804081E07435269
chr85280645652806506E07437892
chr85280652852806715E07437964
chr85280686352807003E07438299
chr85280702552807114E07438461
chr85280713552807210E07438571
chr85280739352807455E07438829
chr85280752752807915E07438963
chr85280924752809312E07440683
chr85280941652809472E07440852
chr85279681952797616E08128255
chr85280739352807455E08138829
chr85280752752807915E08138963
chr85280810352808153E08139539
chr85280817352808362E08139609
chr85280879952808862E08140235
chr85280905352809093E08140489
chr85280910252809173E08140538
chr85280924752809312E08140683
chr85279681952797616E08228255
chr85279778952798436E08229225
chr85279860152798741E08230037










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr85280952052813604E06740956
chr85280952052813604E06840956
chr85280952052813604E06940956
chr85280952052813604E07040956
chr85280952052813604E07140956
chr85280952052813604E07240956
chr85280952052813604E07340956
chr85280952052813604E07440956
chr85280952052813604E08140956
chr85280952052813604E08240956