rs4687605

Homo sapiens
T>C
LOC105377085 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0062 (1882/29970,GnomAD)
C=0071 (2074/29118,TOPMED)
C=0141 (705/5008,1000G)
C=0019 (75/3854,ALSPAC)
C=0014 (53/3708,TWINSUK)
chr3:51520026 (GRCh38.p7) (3p21.2)
AD
GWASdb2
1   publication(s)
See rs on genome
108 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.51520026T>C
GRCh37.p13 chr 3 fix patch HG186_PATCHNW_003315910.1:g.141349T>C
GRCh37.p13 chr 3NC_000003.11:g.51554042T>C

Gene: LOC105377085, uncharacterized LOC105377085(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105377085 transcript variant X1XR_940835.2:n.N/AIntron Variant
LOC105377085 transcript variant X2XR_940836.2:n.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.906C=0.094
1000GenomesAmericanSub694T=0.760C=0.240
1000GenomesEast AsianSub1008T=0.649C=0.351
1000GenomesEuropeSub1006T=0.980C=0.020
1000GenomesGlobalStudy-wide5008T=0.859C=0.141
1000GenomesSouth AsianSub978T=0.960C=0.040
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.981C=0.019
The Genome Aggregation DatabaseAfricanSub8730T=0.928C=0.072
The Genome Aggregation DatabaseAmericanSub838T=0.640C=0.360
The Genome Aggregation DatabaseEast AsianSub1610T=0.672C=0.328
The Genome Aggregation DatabaseEuropeSub18490T=0.977C=0.022
The Genome Aggregation DatabaseGlobalStudy-wide29970T=0.937C=0.062
The Genome Aggregation DatabaseOtherSub302T=0.980C=0.020
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.928C=0.071
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.986C=0.014
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
rs46876050.000845alcohol dependence20201924

eQTL of rs4687605 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 rs4687605 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 )
chr3104810105451E067-35898
chr3114174114280E067-27069
chr3114437114799E067-26550
chr3141018141128E067-221
chr3114174114280E068-27069
chr3114437114799E068-26550
chr3114802115003E068-26346
chr3115137115254E068-26095
chr3115361115440E068-25909
chr3139390139586E068-1763
chr3139704139834E068-1515
chr3141018141128E068-221
chr3141277141526E0680
chr3104810105451E069-35898
chr3105525105633E069-35716
chr3114174114280E069-27069
chr3114437114799E069-26550
chr3114802115003E069-26346
chr3115137115254E069-26095
chr3115361115440E069-25909
chr3141018141128E069-221
chr3114174114280E070-27069
chr3114437114799E070-26550
chr3114802115003E070-26346
chr3115137115254E070-26095
chr3115361115440E070-25909
chr3116283116363E070-24986
chr3116414116901E070-24448
chr3117032117204E070-24145
chr3117319117416E070-23933
chr3117466117544E070-23805
chr3123630123786E070-17563
chr3123847123912E070-17437
chr3124839125153E070-16196
chr3139183139333E070-2016
chr3139390139586E070-1763
chr3139704139834E070-1515
chr3142138142206E070789
chr3144310144411E0702961
chr3145812145986E0704463
chr3152159152209E07010810
chr3152592152664E07011243
chr3152974153132E07011625
chr3153343153416E07011994
chr3173051173150E07031702
chr3173301173444E07031952
chr3104810105451E071-35898
chr3105525105633E071-35716
chr3114174114280E071-27069
chr3114437114799E071-26550
chr3114802115003E071-26346
chr3115137115254E071-26095
chr3141018141128E071-221
chr3141277141526E0710
chr3105525105633E072-35716
chr3114174114280E072-27069
chr3114437114799E072-26550
chr3114802115003E072-26346
chr3115137115254E072-26095
chr3115361115440E072-25909
chr3141018141128E072-221
chr3141018141128E073-221
chr3141277141526E0730
chr3142138142206E073789
chr3111467111643E074-29706
chr3114437114799E074-26550
chr3114802115003E074-26346
chr3115137115254E074-26095
chr3115361115440E074-25909
chr3141018141128E074-221
chr3141277141526E0740
chr3104810105451E081-35898
chr3105525105633E081-35716
chr3114437114799E081-26550
chr3114802115003E081-26346
chr3115137115254E081-26095
chr3115361115440E081-25909
chr3123630123786E081-17563
chr3139183139333E081-2016
chr3139390139586E081-1763
chr3139704139834E081-1515
chr3141018141128E081-221
chr3141277141526E0810
chr3164584164709E08123235
chr3173051173150E08131702
chr3173301173444E08131952
chr3104810105451E082-35898
chr3105525105633E082-35716
chr3114437114799E082-26550
chr3114802115003E082-26346
chr3115137115254E082-26095
chr3115361115440E082-25909
chr3117032117204E082-24145
chr3117319117416E082-23933
chr3117466117544E082-23805
chr3139183139333E082-2016
chr3139390139586E082-1763
chr3139704139834E082-1515
chr3141018141128E082-221
chr3141277141526E0820
chr3142138142206E082789
chr3152974153132E08211625
chr3153343153416E08211994
chr3164433164483E08223084
chr3164584164709E08223235
chr3173051173150E08231702
chr3173301173444E08231952
chr3182518182753E08241169