rs2594210

Homo sapiens
G>A
LOC107986125 : Non Coding Transcript Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0472 (14100/29844,GnomAD)
G==0485 (14132/29118,TOPMED)
A=0459 (2298/5008,1000G)
A=0469 (1806/3854,ALSPAC)
A=0461 (1711/3708,TWINSUK)
chr3:127543914 (GRCh38.p7) (3q21.3)
AD
GWASdb2
1   publication(s)
See rs on genome
149 Enhancers around
18 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.127543914G>A
GRCh37.p13 chr 3NC_000003.11:g.127262757G>A

Gene: LOC107986125, uncharacterized LOC107986125(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC107986125 transcript variant X4XR_001740886.1:n....XR_001740886.1:n.1909G>AG>ANon Coding Transcript Variant
LOC107986125 transcript variant X6XR_001740888.1:n....XR_001740888.1:n.1894G>AG>ANon Coding Transcript Variant
LOC107986125 transcript variant X5XR_001740887.1:n.N/AIntron Variant
LINC02034 transcript variant X6XR_001740889.1:n.N/AIntron Variant
LINC02034 transcript variant X1XR_001740883.1:n.N/AGenic Downstream Transcript Variant
LINC02034 transcript variant X2XR_001740884.1:n.N/AGenic Downstream Transcript Variant
LINC02034 transcript variant X3XR_001740885.1:n.N/AGenic Downstream Transcript Variant
LINC02034 transcript variant X7XR_001740890.1:n.N/AGenic Downstream Transcript Variant
LINC02034 transcript variant X8XR_001740891.1:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.424A=0.576
1000GenomesAmericanSub694G=0.580A=0.420
1000GenomesEast AsianSub1008G=0.667A=0.333
1000GenomesEuropeSub1006G=0.511A=0.489
1000GenomesGlobalStudy-wide5008G=0.541A=0.459
1000GenomesSouth AsianSub978G=0.580A=0.420
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.531A=0.469
The Genome Aggregation DatabaseAfricanSub8686G=0.453A=0.547
The Genome Aggregation DatabaseAmericanSub838G=0.600A=0.400
The Genome Aggregation DatabaseEast AsianSub1606G=0.675A=0.325
The Genome Aggregation DatabaseEuropeSub18412G=0.547A=0.452
The Genome Aggregation DatabaseGlobalStudy-wide29844G=0.527A=0.472
The Genome Aggregation DatabaseOtherSub302G=0.480A=0.520
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.485A=0.514
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.539A=0.461
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
rs25942100.000912alcohol dependence20201924

eQTL of rs2594210 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 rs2594210 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 )
chr3127265362127265408E0672605
chr3127265452127265496E0672695
chr3127265545127265632E0672788
chr3127265642127265718E0672885
chr3127269660127270087E0676903
chr3127293664127294356E06730907
chr3127304028127304330E06741271
chr3127304433127304590E06741676
chr3127304675127304729E06741918
chr3127304748127304938E06741991
chr3127306999127307124E06744242
chr3127270680127270735E0687923
chr3127285807127286012E06823050
chr3127304028127304330E06841271
chr3127304433127304590E06841676
chr3127304675127304729E06841918
chr3127304748127304938E06841991
chr3127306155127306205E06843398
chr3127306266127306474E06843509
chr3127306999127307124E06844242
chr3127263639127263767E069882
chr3127265545127265632E0692788
chr3127265642127265718E0692885
chr3127270680127270735E0697923
chr3127270878127271386E0698121
chr3127271516127271753E0698759
chr3127285515127285575E06922758
chr3127285807127286012E06923050
chr3127293531127293656E06930774
chr3127293664127294356E06930907
chr3127306999127307124E06944242
chr3127244274127244525E070-18232
chr3127245286127245330E070-17427
chr3127245748127246121E070-16636
chr3127253550127253651E070-9106
chr3127253698127253776E070-8981
chr3127254042127254092E070-8665
chr3127254416127254501E070-8256
chr3127254690127254824E070-7933
chr3127255045127255217E070-7540
chr3127255338127255977E070-6780
chr3127256230127256316E070-6441
chr3127256526127256801E070-5956
chr3127261346127261815E070-942
chr3127263054127263546E070297
chr3127263639127263767E070882
chr3127263846127264082E0701089
chr3127264201127264381E0701444
chr3127264420127264482E0701663
chr3127264669127264729E0701912
chr3127265026127265086E0702269
chr3127265106127265164E0702349
chr3127265362127265408E0702605
chr3127265452127265496E0702695
chr3127265545127265632E0702788
chr3127265642127265718E0702885
chr3127293664127294356E07130907
chr3127304028127304330E07141271
chr3127304433127304590E07141676
chr3127304675127304729E07141918
chr3127304748127304938E07141991
chr3127254690127254824E072-7933
chr3127255045127255217E072-7540
chr3127255338127255977E072-6780
chr3127256230127256316E072-6441
chr3127293531127293656E07230774
chr3127293664127294356E07230907
chr3127304028127304330E07241271
chr3127304433127304590E07241676
chr3127304675127304729E07241918
chr3127304748127304938E07241991
chr3127306999127307124E07244242
chr3127254416127254501E073-8256
chr3127263054127263546E073297
chr3127263639127263767E073882
chr3127293531127293656E07330774
chr3127293664127294356E07330907
chr3127306999127307124E07344242
chr3127304028127304330E07441271
chr3127304433127304590E07441676
chr3127304675127304729E07441918
chr3127304748127304938E07441991
chr3127306999127307124E07444242
chr3127253698127253776E081-8981
chr3127255045127255217E081-7540
chr3127255338127255977E081-6780
chr3127256230127256316E081-6441
chr3127260856127260951E081-1806
chr3127260962127261025E081-1732
chr3127261071127261137E081-1620
chr3127261346127261815E081-942
chr3127263054127263546E081297
chr3127263639127263767E081882
chr3127263846127264082E0811089
chr3127264201127264381E0811444
chr3127264420127264482E0811663
chr3127264669127264729E0811912
chr3127265026127265086E0812269
chr3127265106127265164E0812349
chr3127265362127265408E0812605
chr3127265452127265496E0812695
chr3127265545127265632E0812788
chr3127265642127265718E0812885
chr3127267425127267506E0814668
chr3127268140127268278E0815383
chr3127268560127269053E0815803
chr3127269274127269328E0816517
chr3127269408127269593E0816651
chr3127269660127270087E0816903
chr3127270297127270364E0817540
chr3127270680127270735E0817923
chr3127270878127271386E0818121
chr3127271516127271753E0818759
chr3127272956127273284E08110199
chr3127275507127275665E08112750
chr3127283646127283786E08120889
chr3127284460127284511E08121703
chr3127284554127284604E08121797
chr3127293531127293656E08130774
chr3127293664127294356E08130907
chr3127306999127307124E08144242
chr3127254690127254824E082-7933
chr3127255045127255217E082-7540
chr3127255338127255977E082-6780
chr3127256230127256316E082-6441
chr3127256526127256801E082-5956
chr3127263054127263546E082297
chr3127263639127263767E082882
chr3127263846127264082E0821089
chr3127264201127264381E0821444
chr3127264420127264482E0821663
chr3127264669127264729E0821912
chr3127265362127265408E0822605
chr3127265452127265496E0822695
chr3127265545127265632E0822788
chr3127265642127265718E0822885
chr3127268560127269053E0825803
chr3127269274127269328E0826517
chr3127269408127269593E0826651
chr3127269660127270087E0826903
chr3127270297127270364E0827540
chr3127270680127270735E0827923
chr3127270878127271386E0828121
chr3127271516127271753E0828759
chr3127272752127272930E0829995
chr3127287441127287651E08224684
chr3127293531127293656E08230774
chr3127293664127294356E08230907
chr3127294400127294629E08231643










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3127265760127267248E0673003
chr3127308438127311209E06745681
chr3127265760127267248E0683003
chr3127308438127311209E06845681
chr3127265760127267248E0693003
chr3127308438127311209E06945681
chr3127265760127267248E0703003
chr3127308438127311209E07045681
chr3127265760127267248E0713003
chr3127308438127311209E07145681
chr3127265760127267248E0723003
chr3127308438127311209E07245681
chr3127265760127267248E0733003
chr3127308438127311209E07345681
chr3127265760127267248E0743003
chr3127308438127311209E07445681
chr3127265760127267248E0823003
chr3127308438127311209E08245681