rs4568

Homo sapiens
G>A
DHRS1 : 3 Prime UTR Variant
LOC102725044 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0316 (9395/29726,GnomAD)
A=0303 (8835/29118,TOPMED)
A=0441 (2208/5008,1000G)
A=0238 (918/3854,ALSPAC)
A=0231 (858/3708,TWINSUK)
chr14:24290803 (GRCh38.p7) (14q12)
AD
GWASdb2
3   publication(s)
See rs on genome
60 Enhancers around
41 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.24290803G>A
GRCh37.p13 chr 14NC_000014.8:g.24760009G>A

Gene: DHRS1, dehydrogenase/reductase (SDR family) member 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
DHRS1 transcript variant 2NM_138452.2:c.N/A3 Prime UTR Variant
DHRS1 transcript variant 1NM_001136050.2:c.N/A3 Prime UTR Variant

Gene: LOC102725044, uncharacterized LOC102725044(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC102725044 transcript variant X2XR_001750661.1:n.N/AIntron Variant
LOC102725044 transcript variant X6XR_001750664.1:n.N/AIntron Variant
LOC102725044 transcript variant X5XR_943620.1:n.N/AIntron Variant
LOC102725044 transcript variant X1XR_001750660.1:n.N/AGenic Upstream Transcript Variant
LOC102725044 transcript variant X3XR_001750662.1:n.N/AGenic Upstream Transcript Variant
LOC102725044 transcript variant X4XR_001750663.1:n.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.660A=0.340
1000GenomesAmericanSub694G=0.720A=0.280
1000GenomesEast AsianSub1008G=0.286A=0.714
1000GenomesEuropeSub1006G=0.709A=0.291
1000GenomesGlobalStudy-wide5008G=0.559A=0.441
1000GenomesSouth AsianSub978G=0.440A=0.560
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.762A=0.238
The Genome Aggregation DatabaseAfricanSub8630G=0.672A=0.328
The Genome Aggregation DatabaseAmericanSub838G=0.730A=0.270
The Genome Aggregation DatabaseEast AsianSub1602G=0.292A=0.708
The Genome Aggregation DatabaseEuropeSub18356G=0.721A=0.278
The Genome Aggregation DatabaseGlobalStudy-wide29726G=0.683A=0.316
The Genome Aggregation DatabaseOtherSub300G=0.660A=0.340
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.696A=0.303
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.769A=0.231
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
19786129Pathway-based genome-wide association analysis identified the importance of EphrinA-EphR pathway for femoral neck bone geometry.Chen YBone
21798870Allelic heterogeneity and more detailed analyses of known loci explain additional phenotypic variation and reveal complex patterns of association.Wood ARHum Mol Genet

P-Value

SNP ID p-value Traits Study
rs45680.0004alcohol dependence20201924

eQTL of rs4568 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 rs4568 in Fetal Brain

Probe ID Position Gene beta p-value
cg16194253chr14:24768981C14orf21|DHRS1-0.01473091633416745.2985e-11

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 )
chr142471014324710621E067-49388
chr142474826624749232E067-10777
chr142474923924749501E067-10508
chr142474962724749677E067-10332
chr142474970924749759E067-10250
chr142474978824749868E067-10141
chr142474995224750026E067-9983
chr142476561924765669E0675610
chr142476571524766734E0675706
chr142478179924782080E06721790
chr142471014324710621E068-49388
chr142476787924767929E0687870
chr142477686524777978E06816856
chr142478179924782080E06821790
chr142478301524783117E06823006
chr142478316024783935E06823151
chr142478482624786110E06824817
chr142471014324710621E069-49388
chr142474775024747870E069-12139
chr142474802224748163E069-11846
chr142474818224748222E069-11787
chr142474826624749232E069-10777
chr142474923924749501E069-10508
chr142476571524766734E0695706
chr142476787924767929E0697870
chr142478179924782080E06921790
chr142478301524783117E06923006
chr142475017124750394E070-9615
chr142479537524795433E07035366
chr142471014324710621E071-49388
chr142474640924746576E071-13433
chr142474826624749232E071-10777
chr142474923924749501E071-10508
chr142476787924767929E0717870
chr142477866124778972E07118652
chr142478179924782080E07121790
chr142478301524783117E07123006
chr142478316024783935E07123151
chr142478393924784423E07123930
chr142478475824784812E07124749
chr142480560624805676E07145597
chr142471014324710621E072-49388
chr142474826624749232E072-10777
chr142474923924749501E072-10508
chr142478482624786110E07224817
chr142471014324710621E073-49388
chr142478179924782080E07321790
chr142471014324710621E074-49388
chr142474775024747870E074-12139
chr142474818224748222E074-11787
chr142474826624749232E074-10777
chr142474923924749501E074-10508
chr142476571524766734E0745706
chr142478316024783935E07423151
chr142478393924784423E07423930
chr142480783924808048E07447830
chr142471014324710621E081-49388
chr142476787924767929E0817870
chr142478482624786110E08124817
chr142475384324753989E082-6020










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr142471085624713253E067-46756
chr142473983624741614E067-18395
chr142476809324769868E0678084
chr142480837624809523E06748367
chr142471085624713253E068-46756
chr142473983624741614E068-18395
chr142476809324769868E0688084
chr142480079524802449E06840786
chr142480261824804555E06842609
chr142480837624809523E06848367
chr142471085624713253E069-46756
chr142473983624741614E069-18395
chr142476809324769868E0698084
chr142480261824804555E06942609
chr142480837624809523E06948367
chr142471085624713253E070-46756
chr142473983624741614E070-18395
chr142476809324769868E0708084
chr142471085624713253E071-46756
chr142473983624741614E071-18395
chr142476809324769868E0718084
chr142480837624809523E07148367
chr142471085624713253E072-46756
chr142473983624741614E072-18395
chr142476809324769868E0728084
chr142480261824804555E07242609
chr142471085624713253E073-46756
chr142473983624741614E073-18395
chr142476809324769868E0738084
chr142480261824804555E07342609
chr142480837624809523E07348367
chr142471085624713253E074-46756
chr142473983624741614E074-18395
chr142476809324769868E0748084
chr142480837624809523E07448367
chr142471085624713253E081-46756
chr142473983624741614E081-18395
chr142476809324769868E0818084
chr142471085624713253E082-46756
chr142473983624741614E082-18395
chr142476809324769868E0828084