rs4783448

Homo sapiens
C>T
EEF2K : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0079 (2391/29938,GnomAD)
T=0072 (2103/29118,TOPMED)
T=0150 (749/5008,1000G)
T=0069 (267/3854,ALSPAC)
T=0069 (257/3708,TWINSUK)
chr16:22230112 (GRCh38.p7) (16p12.2)
AD
GWASdb2
1   publication(s)
See rs on genome
46 Enhancers around
25 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 16NC_000016.10:g.22230112C>T
GRCh37.p13 chr 16NC_000016.9:g.22241433C>T

Gene: EEF2K, eukaryotic elongation factor 2 kinase(plus strand)

Molecule type Change Amino acid[Codon] SO Term
EEF2K transcriptNM_013302.3:c.N/AIntron Variant
EEF2K transcript variant X1XM_017023193.1:c.N/AIntron Variant
EEF2K transcript variant X2XM_017023194.1:c.N/AIntron Variant
EEF2K transcript variant X4XR_001751897.1:n.N/AIntron Variant
EEF2K transcript variant X3XR_950786.2:n.N/AIntron Variant
EEF2K transcript variant X5XR_950787.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.960T=0.040
1000GenomesAmericanSub694C=0.820T=0.180
1000GenomesEast AsianSub1008C=0.686T=0.314
1000GenomesEuropeSub1006C=0.930T=0.070
1000GenomesGlobalStudy-wide5008C=0.850T=0.150
1000GenomesSouth AsianSub978C=0.810T=0.190
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.931T=0.069
The Genome Aggregation DatabaseAfricanSub8718C=0.957T=0.043
The Genome Aggregation DatabaseAmericanSub838C=0.800T=0.200
The Genome Aggregation DatabaseEast AsianSub1616C=0.738T=0.262
The Genome Aggregation DatabaseEuropeSub18464C=0.924T=0.075
The Genome Aggregation DatabaseGlobalStudy-wide29938C=0.920T=0.079
The Genome Aggregation DatabaseOtherSub302C=0.890T=0.110
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.927T=0.072
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.931T=0.069
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
rs47834480.00075alcohol dependence20201924

eQTL of rs4783448 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 rs4783448 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 )
chr162222230522222440E067-18993
chr162222257422222675E067-18758
chr162223444922234514E067-6919
chr162221942922219610E068-21823
chr162221961822219734E068-21699
chr162221975822219827E068-21606
chr162221985022219904E068-21529
chr162221991222219962E068-21471
chr162222017722220235E068-21198
chr162223634522236954E068-4479
chr162224380722244581E0682374
chr162221942922219610E069-21823
chr162222195422222150E069-19283
chr162222230522222440E069-18993
chr162222257422222675E069-18758
chr162222311822223357E069-18076
chr162222745722228168E069-13265
chr162223113122231871E069-9562
chr162223191422232500E069-8933
chr162221942922219610E070-21823
chr162222169722221852E071-19581
chr162222195422222150E071-19283
chr162222230522222440E071-18993
chr162222257422222675E071-18758
chr162222311822223357E071-18076
chr162222343522223479E071-17954
chr162222352422223627E071-17806
chr162223113122231871E071-9562
chr162222311822223357E072-18076
chr162222343522223479E072-17954
chr162222352422223627E072-17806
chr162222745722228168E072-13265
chr162223113122231871E072-9562
chr162223191422232500E072-8933
chr162222075322220888E073-20545
chr162222094022220980E073-20453
chr162222102022221095E073-20338
chr162222136722221456E073-19977
chr162222147222221679E073-19754
chr162222169722221852E073-19581
chr162222195422222150E073-19283
chr162222230522222440E073-18993
chr162223113122231871E073-9562
chr162223191422232500E073-8933
chr162221942922219610E081-21823
chr162221942922219610E082-21823









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr162219953522204665E067-36768
chr162221698022219280E067-22153
chr162219953522204665E068-36768
chr162220592522207872E068-33561
chr162221698022219280E068-22153
chr162219953522204665E069-36768
chr162221698022219280E069-22153
chr162219953522204665E070-36768
chr162221698022219280E070-22153
chr162219953522204665E071-36768
chr162220592522207872E071-33561
chr162221698022219280E071-22153
chr162219953522204665E072-36768
chr162220592522207872E072-33561
chr162221698022219280E072-22153
chr162219953522204665E073-36768
chr162220592522207872E073-33561
chr162221698022219280E073-22153
chr162219953522204665E074-36768
chr162221698022219280E074-22153
chr162219953522204665E081-36768
chr162221698022219280E081-22153
chr162219953522204665E082-36768
chr162220818222208589E082-32844
chr162221698022219280E082-22153