rs1014640

Homo sapiens
T>C
ADAMTS9 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0233 (6984/29958,GnomAD)
C=0222 (6467/29118,TOPMED)
C=0330 (1653/5008,1000G)
C=0243 (935/3854,ALSPAC)
C=0256 (949/3708,TWINSUK)
chr3:64557939 (GRCh38.p7) (3p14.1)
AD
GWASdb2
1   publication(s)
See rs on genome
72 Enhancers around
1 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.64557939T>C
GRCh37.p13 chr 3NC_000003.11:g.64543615T>C

Gene: ADAMTS9, ADAM metallopeptidase with thrombospondin type 1 motif 9(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ADAMTS9 transcript variant 4NM_001318781.1:c.N/AIntron Variant
ADAMTS9 transcript variant 1NM_182920.1:c.N/AIntron Variant
ADAMTS9 transcript variant X1XR_245151.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.815C=0.185
1000GenomesAmericanSub694T=0.730C=0.270
1000GenomesEast AsianSub1008T=0.447C=0.553
1000GenomesEuropeSub1006T=0.783C=0.217
1000GenomesGlobalStudy-wide5008T=0.670C=0.330
1000GenomesSouth AsianSub978T=0.540C=0.460
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.757C=0.243
The Genome Aggregation DatabaseAfricanSub8720T=0.824C=0.176
The Genome Aggregation DatabaseAmericanSub838T=0.740C=0.260
The Genome Aggregation DatabaseEast AsianSub1612T=0.430C=0.570
The Genome Aggregation DatabaseEuropeSub18486T=0.772C=0.227
The Genome Aggregation DatabaseGlobalStudy-wide29958T=0.766C=0.233
The Genome Aggregation DatabaseOtherSub302T=0.660C=0.340
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.777C=0.222
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.744C=0.256
PMID Title Author Journal
22072270Genome-wide association study identifies 5q21 and 9p24.1 (KDM4C) loci associated with alcohol withdrawal symptoms.Wang KSJ Neural Transm (Vienna)

P-Value

SNP ID p-value Traits Study
rs10146408.89E-05alcohol withdrawal symptoms22072270

eQTL of rs1014640 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 rs1014640 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 )
chr36453369564533823E067-9792
chr36453384564534526E067-9089
chr36458549164585682E06741876
chr36451923264519910E068-23705
chr36453369564533823E068-9792
chr36453384564534526E068-9089
chr36453453464534673E068-8942
chr36458549164585682E06841876
chr36458580264586504E06842187
chr36451923264519910E069-23705
chr36453369564533823E069-9792
chr36453384564534526E069-9089
chr36453453464534673E069-8942
chr36453238064532430E070-11185
chr36453245264532571E070-11044
chr36453268264532726E070-10889
chr36453287764533122E070-10493
chr36453346364533507E070-10108
chr36453369564533823E070-9792
chr36453384564534526E070-9089
chr36453453464534673E070-8942
chr36453527064535320E070-8295
chr36453568764535737E070-7878
chr36454034364540448E070-3167
chr36456200464562498E07018389
chr36456384164563885E07020226
chr36456400364564101E07020388
chr36456412864564374E07020513
chr36456449164564545E07020876
chr36457916864579272E07035553
chr36458549164585682E07041876
chr36458580264586504E07042187
chr36458697464587040E07043359
chr36451923264519910E071-23705
chr36451996464520018E071-23597
chr36453369564533823E071-9792
chr36453384564534526E071-9089
chr36453453464534673E071-8942
chr36458580264586504E07142187
chr36451923264519910E072-23705
chr36453369564533823E072-9792
chr36453384564534526E072-9089
chr36453453464534673E072-8942
chr36451923264519910E073-23705
chr36451996464520018E073-23597
chr36453369564533823E073-9792
chr36453384564534526E073-9089
chr36458549164585682E07341876
chr36451580664516186E074-27429
chr36451622664516411E074-27204
chr36451650764516558E074-27057
chr36451923264519910E074-23705
chr36451996464520018E074-23597
chr36453384564534526E074-9089
chr36458549164585682E07441876
chr36458580264586504E07442187
chr36451996464520018E081-23597
chr36453369564533823E081-9792
chr36453384564534526E081-9089
chr36453453464534673E081-8942
chr36453527064535320E081-8295
chr36454034364540448E081-3167
chr36456200464562498E08118389
chr36458549164585682E08141876
chr36458580264586504E08142187
chr36451996464520018E082-23597
chr36452510364525691E082-17924
chr36453384564534526E082-9089
chr36453453464534673E082-8942
chr36456200464562498E08218389
chr36458549164585682E08241876
chr36458580264586504E08242187










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr36454677964547911E0813164