rs7206714

Homo sapiens
A>C
GRIN2A : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0291 (8716/29928,GnomAD)
C=0265 (7716/29118,TOPMED)
C=0302 (1513/5008,1000G)
C=0336 (1294/3854,ALSPAC)
C=0353 (1309/3708,TWINSUK)
chr16:10084138 (GRCh38.p7) (16p13.2)
AD
GWASdb2
1   publication(s)
See rs on genome
149 Enhancers around
18 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 16NC_000016.10:g.10084138A>C
GRCh37.p13 chr 16NC_000016.9:g.10177995A>C
GRIN2A RefSeqGeneNG_011812.1:g.103617T>G

Gene: GRIN2A, glutamate ionotropic receptor NMDA type subunit 2A(minus strand)

Molecule type Change Amino acid[Codon] SO Term
GRIN2A transcript variant 2NM_000833.4:c.N/AIntron Variant
GRIN2A transcript variant 1NM_001134407.2:c.N/AIntron Variant
GRIN2A transcript variant 3NM_001134408.2:c.N/AIntron Variant
GRIN2A transcript variant X4XM_011522461.2:c.N/AIntron Variant
GRIN2A transcript variant X1XM_017023172.1:c.N/AIntron Variant
GRIN2A transcript variant X2XM_017023173.1:c.N/AIntron Variant
GRIN2A transcript variant X3XM_011522458.2:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.879C=0.121
1000GenomesAmericanSub694A=0.740C=0.260
1000GenomesEast AsianSub1008A=0.542C=0.458
1000GenomesEuropeSub1006A=0.646C=0.354
1000GenomesGlobalStudy-wide5008A=0.698C=0.302
1000GenomesSouth AsianSub978A=0.640C=0.360
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.664C=0.336
The Genome Aggregation DatabaseAfricanSub8720A=0.843C=0.157
The Genome Aggregation DatabaseAmericanSub834A=0.770C=0.230
The Genome Aggregation DatabaseEast AsianSub1608A=0.550C=0.450
The Genome Aggregation DatabaseEuropeSub18468A=0.657C=0.342
The Genome Aggregation DatabaseGlobalStudy-wide29928A=0.708C=0.291
The Genome Aggregation DatabaseOtherSub298A=0.650C=0.350
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.735C=0.265
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.647C=0.353
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs72067141.69E-05alcohol dependence21314694

eQTL of rs7206714 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 rs7206714 in Fetal Brain

Probe ID Position Gene beta p-value
cg08242859chr7:128032651IMPDH1-0.04627260545347953.0664e-22

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 )
chr161016134810161484E067-16511
chr161016177010161870E067-16125
chr161016305710163107E067-14888
chr161016314610163196E067-14799
chr161016340410163451E067-14544
chr161016347310163560E067-14435
chr161017355810174795E067-3200
chr161017498210175081E067-2914
chr161017509710175253E067-2742
chr161017542610175827E067-2168
chr161018061010180740E0672615
chr161019377110193847E06715776
chr161019406410194158E06716069
chr161021487410215205E06736879
chr161021547310215647E06737478
chr161021603210216102E06738037
chr161022057510221028E06742580
chr161022106710221206E06743072
chr161022128710221358E06743292
chr161022425810224445E06746263
chr161022446910224519E06746474
chr161022452710224583E06746532
chr161022466810224770E06746673
chr161022488810225000E06746893
chr161022505410225274E06747059
chr161022551210225565E06747517
chr161013171810131928E068-46067
chr161017230310172924E068-5071
chr161017321610173278E068-4717
chr161017355810174795E068-3200
chr161017498210175081E068-2914
chr161017509710175253E068-2742
chr161017542610175827E068-2168
chr161018061010180740E0682615
chr161018233210182436E0684337
chr161018244710182704E0684452
chr161021487410215205E06836879
chr161021547310215647E06837478
chr161021709010217301E06839095
chr161021979810219862E06841803
chr161022057510221028E06842580
chr161022106710221206E06843072
chr161022128710221358E06843292
chr161022425810224445E06846263
chr161022446910224519E06846474
chr161022452710224583E06846532
chr161022466810224770E06846673
chr161022488810225000E06846893
chr161022505410225274E06847059
chr161022551210225565E06847517
chr161013171810131928E069-46067
chr161016340410163451E069-14544
chr161016347310163560E069-14435
chr161017355810174795E069-3200
chr161017498210175081E069-2914
chr161017509710175253E069-2742
chr161017542610175827E069-2168
chr161021547310215647E06937478
chr161021603210216102E06938037
chr161021629810216404E06938303
chr161022057510221028E06942580
chr161022106710221206E06943072
chr161022128710221358E06943292
chr161022505410225274E06947059
chr161022551210225565E06947517
chr161014216710142469E070-35526
chr161014267110143053E070-34942
chr161017230310172924E070-5071
chr161021603210216102E07038037
chr161013171810131928E071-46067
chr161017321610173278E071-4717
chr161017355810174795E071-3200
chr161017498210175081E071-2914
chr161017509710175253E071-2742
chr161020833210208651E07130337
chr161020924510209295E07131250
chr161021547310215647E07137478
chr161021603210216102E07138037
chr161021649210216654E07138497
chr161021668810216798E07138693
chr161022057510221028E07142580
chr161022106710221206E07143072
chr161022128710221358E07143292
chr161022488810225000E07146893
chr161022505410225274E07147059
chr161012805510128095E072-49900
chr161017205710172174E072-5821
chr161017224610172294E072-5701
chr161017230310172924E072-5071
chr161017355810174795E072-3200
chr161019377110193847E07215776
chr161019406410194158E07216069
chr161021487410215205E07236879
chr161021547310215647E07237478
chr161021668810216798E07238693
chr161022057510221028E07242580
chr161022106710221206E07243072
chr161022128710221358E07243292
chr161022425810224445E07246263
chr161022446910224519E07246474
chr161022452710224583E07246532
chr161022466810224770E07246673
chr161022488810225000E07246893
chr161022505410225274E07247059
chr161022551210225565E07247517
chr161013430410134423E073-43572
chr161013442410134542E073-43453
chr161013463410134814E073-43181
chr161016462310164694E073-13301
chr161017230310172924E073-5071
chr161017321610173278E073-4717
chr161017355810174795E073-3200
chr161017498210175081E073-2914
chr161017509710175253E073-2742
chr161018012910180183E0732134
chr161018061010180740E0732615
chr161021603210216102E07338037
chr161021629810216404E07338303
chr161021649210216654E07338497
chr161021668810216798E07338693
chr161022057510221028E07342580
chr161022106710221206E07343072
chr161022128710221358E07343292
chr161022155510221640E07343560
chr161022247610222526E07344481
chr161022255210222786E07344557
chr161022505410225274E07347059
chr161017355810174795E074-3200
chr161017498210175081E074-2914
chr161017509710175253E074-2742
chr161017542610175827E074-2168
chr161021487410215205E07436879
chr161021603210216102E07438037
chr161022057510221028E07442580
chr161022106710221206E07443072
chr161022128710221358E07443292
chr161017230310172924E081-5071
chr161017321610173278E081-4717
chr161017355810174795E081-3200
chr161017498210175081E081-2914
chr161017509710175253E081-2742
chr161017542610175827E081-2168
chr161019326410193318E08115269
chr161019406410194158E08116069
chr161017230310172924E082-5071
chr161017355810174795E082-3200
chr161017498210175081E082-2914
chr161017509710175253E082-2742
chr161021603210216102E08238037










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr161013274810132864E067-45131
chr161013290610134245E067-43750
chr161013274810132864E068-45131
chr161013290610134245E068-43750
chr161013274810132864E069-45131
chr161013290610134245E069-43750
chr161013255210132651E070-45344
chr161013274810132864E070-45131
chr161013290610134245E070-43750
chr161013274810132864E071-45131
chr161013274810132864E072-45131
chr161013290610134245E072-43750
chr161013274810132864E073-45131
chr161013274810132864E074-45131
chr161013290610134245E074-43750
chr161013255210132651E082-45344
chr161013274810132864E082-45131
chr161013290610134245E082-43750