rs4868468

Homo sapiens
G>A
FLJ16171 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0121 (3647/29944,GnomAD)
A=0099 (2897/29118,TOPMED)
A=0062 (308/5008,1000G)
A=0181 (699/3854,ALSPAC)
A=0190 (706/3708,TWINSUK)
chr5:174952561 (GRCh38.p7) (5q35.2)
AD
GWASdb2
1   publication(s)
See rs on genome
36 Enhancers around
12 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.174952561G>A
GRCh37.p13 chr 5NC_000005.9:g.174379564G>A

Gene: FLJ16171, FLJ16171 protein(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LINC01951 transcriptNR_046113.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.991A=0.009
1000GenomesAmericanSub694G=0.920A=0.080
1000GenomesEast AsianSub1008G=0.999A=0.001
1000GenomesEuropeSub1006G=0.844A=0.156
1000GenomesGlobalStudy-wide5008G=0.938A=0.062
1000GenomesSouth AsianSub978G=0.910A=0.090
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.819A=0.181
The Genome Aggregation DatabaseAfricanSub8722G=0.966A=0.034
The Genome Aggregation DatabaseAmericanSub838G=0.940A=0.060
The Genome Aggregation DatabaseEast AsianSub1622G=0.999A=0.001
The Genome Aggregation DatabaseEuropeSub18460G=0.823A=0.176
The Genome Aggregation DatabaseGlobalStudy-wide29944G=0.878A=0.121
The Genome Aggregation DatabaseOtherSub302G=0.850A=0.150
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.900A=0.099
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.810A=0.190
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
rs48684680.00041alcohol dependence20201924

eQTL of rs4868468 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 rs4868468 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 )
chr5174352664174352902E067-26662
chr5174418976174419111E06739412
chr5174428886174429189E06749322
chr5174352664174352902E068-26662
chr5174362315174362414E068-17150
chr5174362732174363184E068-16380
chr5174418069174418178E06838505
chr5174418976174419111E06839412
chr5174428886174429189E06849322
chr5174362148174362286E069-17278
chr5174362315174362414E069-17150
chr5174362732174363184E069-16380
chr5174418069174418178E06938505
chr5174418976174419111E06939412
chr5174428886174429189E06949322
chr5174418976174419111E07039412
chr5174426718174426830E07047154
chr5174428886174429189E07049322
chr5174352664174352902E071-26662
chr5174362315174362414E071-17150
chr5174362732174363184E071-16380
chr5174418976174419111E07139412
chr5174428886174429189E07149322
chr5174362315174362414E072-17150
chr5174362732174363184E072-16380
chr5174418069174418178E07238505
chr5174428886174429189E07249322
chr5174362315174362414E073-17150
chr5174418069174418178E07338505
chr5174428886174429189E07349322
chr5174362315174362414E074-17150
chr5174362732174363184E074-16380
chr5174418069174418178E07438505
chr5174428886174429189E07449322
chr5174380517174380632E081953
chr5174380794174381291E0811230









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr5174337254174337719E067-41845
chr5174337790174337850E067-41714
chr5174337254174337719E068-41845
chr5174337254174337719E069-41845
chr5174337790174337850E069-41714
chr5174337254174337719E071-41845
chr5174337254174337719E072-41845
chr5174337790174337850E072-41714
chr5174337254174337719E073-41845
chr5174337790174337850E073-41714
chr5174337254174337719E074-41845
chr5174337790174337850E074-41714