rs9316348

Homo sapiens
G>A
MED4 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0295 (8845/29918,GnomAD)
A=0344 (10041/29116,TOPMED)
A=0336 (1685/5008,1000G)
A=0194 (747/3854,ALSPAC)
A=0201 (746/3708,TWINSUK)
chr13:48092554 (GRCh38.p7) (13q14.2)
AD
GWASdb2
1   publication(s)
See rs on genome
72 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 13NC_000013.11:g.48092554G>A
GRCh37.p13 chr 13NC_000013.10:g.48666690G>A

Gene: MED4, mediator complex subunit 4(minus strand)

Molecule type Change Amino acid[Codon] SO Term
MED4 transcript variant 2NM_001270629.1:c.N/AIntron Variant
MED4 transcript variant 1NM_014166.3:c.N/AIntron Variant
MED4 transcript variant X1XM_017020549.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.405A=0.595
1000GenomesAmericanSub694G=0.720A=0.280
1000GenomesEast AsianSub1008G=0.687A=0.313
1000GenomesEuropeSub1006G=0.812A=0.188
1000GenomesGlobalStudy-wide5008G=0.664A=0.336
1000GenomesSouth AsianSub978G=0.800A=0.200
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.806A=0.194
The Genome Aggregation DatabaseAfricanSub8694G=0.486A=0.514
The Genome Aggregation DatabaseAmericanSub838G=0.740A=0.260
The Genome Aggregation DatabaseEast AsianSub1614G=0.649A=0.351
The Genome Aggregation DatabaseEuropeSub18470G=0.808A=0.191
The Genome Aggregation DatabaseGlobalStudy-wide29918G=0.704A=0.295
The Genome Aggregation DatabaseOtherSub302G=0.810A=0.190
Trans-Omics for Precision MedicineGlobalStudy-wide29116G=0.655A=0.344
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.799A=0.201
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
rs93163480.000307alcohol dependence21314694

eQTL of rs9316348 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 rs9316348 in Fetal Brain

Probe ID Position Gene beta p-value
cg18221580chr13:48575897SUCLA2-0.09124573394665233.1904e-20
cg01732984chr13:48575859SUCLA2-0.05881226256556151.1099e-15

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 )
chr134866769648667766E0671006
chr134868365648683700E06716966
chr134868511548685406E06718425
chr134868546348685513E06718773
chr134868564448685752E06718954
chr134868578248685869E06719092
chr134868598948686136E06719299
chr134866701448667068E068324
chr134866711248667250E068422
chr134866732148667361E068631
chr134866769648667766E0681006
chr134868385048683900E06817160
chr134868394748684027E06817257
chr134868403048684092E06817340
chr134868467948684870E06817989
chr134868511548685406E06818425
chr134868546348685513E06818773
chr134868564448685752E06818954
chr134868578248685869E06819092
chr134868598948686136E06819299
chr134868624748686298E06819557
chr134870090648702022E06834216
chr134868511548685406E06918425
chr134868546348685513E06918773
chr134868564448685752E06918954
chr134868578248685869E06919092
chr134868598948686136E06919299
chr134868624748686298E06919557
chr134870090648702022E06934216
chr134868511548685406E07118425
chr134868546348685513E07118773
chr134868564448685752E07118954
chr134868578248685869E07119092
chr134868598948686136E07119299
chr134868624748686298E07119557
chr134869837748698575E07131687
chr134869867548698749E07131985
chr134869984148700467E07133151
chr134870090648702022E07134216
chr134870244348702483E07135753
chr134866701448667068E072324
chr134866711248667250E072422
chr134866732148667361E072631
chr134866769648667766E0721006
chr134868546348685513E07218773
chr134868564448685752E07218954
chr134868578248685869E07219092
chr134866682148666873E073131
chr134866689548666981E073205
chr134866701448667068E073324
chr134866711248667250E073422
chr134866732148667361E073631
chr134866769648667766E0731006
chr134866769648667766E0741006
chr134868467948684870E07417989
chr134868511548685406E07418425
chr134868546348685513E07418773
chr134868564448685752E07418954
chr134868578248685869E07419092
chr134868598948686136E07419299
chr134870090648702022E07434216
chr134866769648667766E0811006
chr134866551848665589E082-1101
chr134866580848665858E082-832
chr134866609448666148E082-542
chr134866656648666669E082-21
chr134866673048666790E08240
chr134866682148666873E082131
chr134866689548666981E082205
chr134866701448667068E082324
chr134866711248667250E082422
chr134866732148667361E082631









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr134866840048669625E0671710
chr134866840048669625E0681710
chr134866840048669625E0691710
chr134866840048669625E0701710
chr134866840048669625E0711710
chr134866840048669625E0721710
chr134866840048669625E0731710
chr134866840048669625E0741710
chr134866840048669625E0811710
chr134866840048669625E0821710