rs10230965

Homo sapiens
G>T
LOC101928451 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0173 (5184/29930,GnomAD)
T=0203 (5929/29118,TOPMED)
T=0131 (658/5008,1000G)
T=0194 (749/3854,ALSPAC)
T=0192 (713/3708,TWINSUK)
chr7:128582912 (GRCh38.p7) (7q32.1)
AD
GWASdb2
1   publication(s)
See rs on genome
51 Enhancers around
6 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.128582912G>T
GRCh37.p13 chr 7NC_000007.13:g.128222966G>T

Gene: LOC101928451, uncharacterized LOC101928451(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC101928451 transcript variant X1XR_927951.2:n.N/AIntron Variant
LOC101928451 transcript variant X3XR_927952.2:n.N/AIntron Variant
LOC101928451 transcript variant X2XR_927953.2:n.N/AIntron Variant
LOC101928451 transcript variant X4XR_927954.2:n.N/AIntron Variant
LOC101928451 transcript variant X5XR_927955.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.807T=0.193
1000GenomesAmericanSub694G=0.850T=0.150
1000GenomesEast AsianSub1008G=0.947T=0.053
1000GenomesEuropeSub1006G=0.819T=0.181
1000GenomesGlobalStudy-wide5008G=0.869T=0.131
1000GenomesSouth AsianSub978G=0.930T=0.070
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.806T=0.194
The Genome Aggregation DatabaseAfricanSub8708G=0.813T=0.187
The Genome Aggregation DatabaseAmericanSub836G=0.850T=0.150
The Genome Aggregation DatabaseEast AsianSub1608G=0.935T=0.065
The Genome Aggregation DatabaseEuropeSub18476G=0.824T=0.175
The Genome Aggregation DatabaseGlobalStudy-wide29930G=0.826T=0.173
The Genome Aggregation DatabaseOtherSub302G=0.740T=0.260
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.796T=0.203
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.808T=0.192
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
rs102309650.00053alcohol dependence20201924

eQTL of rs10230965 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr7:128222966RP11-274B21.10ENSG00000271553.1G>T9.6910e-15-84131Cerebellum
Chr7:128222966FAM71F2ENSG00000205085.4G>T4.5235e-8-89376Cerebellum
Chr7:128222966RP11-274B21.10ENSG00000271553.1G>T1.0430e-4-84131Frontal_Cortex_BA9
Chr7:128222966RP11-274B21.10ENSG00000271553.1G>T3.4149e-6-84131Cortex
Chr7:128222966RP11-274B21.10ENSG00000271553.1G>T8.2249e-9-84131Caudate_basal_ganglia
Chr7:128222966RP11-274B21.10ENSG00000271553.1G>T2.9285e-7-84131Nucleus_accumbens_basal_ganglia

meQTL of rs10230965 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 )
chr7128191081128191131E067-31835
chr7128191141128191185E067-31781
chr7128231926128232072E0678960
chr7128232755128232832E0679789
chr7128233123128233177E06710157
chr7128233250128233335E06710284
chr7128238848128239007E06715882
chr7128239148128239363E06716182
chr7128234311128234421E06811345
chr7128239148128239363E06816182
chr7128173809128173863E069-49103
chr7128173931128173985E069-48981
chr7128231926128232072E0698960
chr7128232755128232832E0699789
chr7128233123128233177E06910157
chr7128233250128233335E06910284
chr7128238848128239007E06915882
chr7128239148128239363E06916182
chr7128238848128239007E07015882
chr7128239148128239363E07016182
chr7128173809128173863E071-49103
chr7128173931128173985E071-48981
chr7128174078128174197E071-48769
chr7128214165128214215E071-8751
chr7128231926128232072E0718960
chr7128232755128232832E0719789
chr7128233123128233177E07110157
chr7128233250128233335E07110284
chr7128238848128239007E07115882
chr7128239148128239363E07116182
chr7128214165128214215E072-8751
chr7128214305128214419E072-8547
chr7128231926128232072E0728960
chr7128232755128232832E0729789
chr7128233123128233177E07210157
chr7128233250128233335E07210284
chr7128173809128173863E073-49103
chr7128173931128173985E073-48981
chr7128233250128233335E07310284
chr7128232755128232832E0749789
chr7128233123128233177E07410157
chr7128233250128233335E07410284
chr7128237454128237592E07414488
chr7128238069128238204E07415103
chr7128238310128238437E07415344
chr7128238848128239007E07415882
chr7128239148128239363E07416182
chr7128240103128240155E07417137
chr7128240253128240297E07417287
chr7128238848128239007E08115882
chr7128239148128239363E08116182









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr7128173005128173063E070-49903
chr7128173140128173267E070-49699
chr7128173005128173063E073-49903
chr7128173140128173267E073-49699
chr7128173005128173063E082-49903
chr7128173140128173267E082-49699