rs10516812

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0078 (2360/29914,GnomAD)
T=0082 (2393/29118,TOPMED)
T=0111 (554/5008,1000G)
T=0039 (150/3854,ALSPAC)
T=0043 (159/3708,TWINSUK)
chr4:88556950 (GRCh38.p7) (4q22.1)
AD
GWASdb2
1   publication(s)
See rs on genome
107 Enhancers around
20 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.88556950C>T
GRCh37.p13 chr 4NC_000004.11:g.89478101C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.866T=0.134
1000GenomesAmericanSub694C=0.960T=0.040
1000GenomesEast AsianSub1008C=0.753T=0.247
1000GenomesEuropeSub1006C=0.951T=0.049
1000GenomesGlobalStudy-wide5008C=0.889T=0.111
1000GenomesSouth AsianSub978C=0.940T=0.060
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.961T=0.039
The Genome Aggregation DatabaseAfricanSub8712C=0.886T=0.114
The Genome Aggregation DatabaseAmericanSub838C=0.950T=0.050
The Genome Aggregation DatabaseEast AsianSub1610C=0.712T=0.288
The Genome Aggregation DatabaseEuropeSub18452C=0.953T=0.046
The Genome Aggregation DatabaseGlobalStudy-wide29914C=0.921T=0.078
The Genome Aggregation DatabaseOtherSub302C=0.980T=0.020
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.917T=0.082
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.957T=0.043
PMID Title Author Journal
21529783A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.Heath ACBiol Psychiatry

P-Value

SNP ID p-value Traits Study
rs105168127.2E-05alcoholism (heaviness of drinking)21529783

eQTL of rs10516812 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 rs10516812 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 )
chr48944233989442570E067-35531
chr48944270789442862E067-35239
chr48944349189443535E067-34566
chr48949459189494689E06716490
chr48949469089495158E06716589
chr48951874289518909E06740641
chr48951909289519859E06740991
chr48951992689520005E06741825
chr48952009489520166E06741993
chr48952033789520392E06742236
chr48952063689520757E06742535
chr48952079989520978E06742698
chr48943669389437209E068-40892
chr48944349189443535E068-34566
chr48944694389447044E068-31057
chr48949459189494689E06816490
chr48949469089495158E06816589
chr48949523589495425E06817134
chr48949600589496049E06817904
chr48949650189496650E06818400
chr48951766089517716E06839559
chr48951992689520005E06841825
chr48952009489520166E06841993
chr48952033789520392E06842236
chr48952063689520757E06842535
chr48952079989520978E06842698
chr48952103489522028E06842933
chr48944610589446149E069-31952
chr48944657789446675E069-31426
chr48944688189446921E069-31180
chr48944694389447044E069-31057
chr48951529289515373E06937191
chr48951874289518909E06940641
chr48951909289519859E06940991
chr48951992689520005E06941825
chr48952009489520166E06941993
chr48952033789520392E06942236
chr48952063689520757E06942535
chr48952079989520978E06942698
chr48952402889524352E06945927
chr48944270789442862E070-35239
chr48944349189443535E070-34566
chr48944349189443535E071-34566
chr48944610589446149E071-31952
chr48944657789446675E071-31426
chr48944688189446921E071-31180
chr48944694389447044E071-31057
chr48949459189494689E07116490
chr48949469089495158E07116589
chr48949523589495425E07117134
chr48949650189496650E07118400
chr48951229489512334E07134193
chr48951909289519859E07140991
chr48951992689520005E07141825
chr48952009489520166E07141993
chr48952033789520392E07142236
chr48952063689520757E07142535
chr48952079989520978E07142698
chr48952103489522028E07142933
chr48952255889522674E07144457
chr48951229489512334E07234193
chr48952079989520978E07242698
chr48952103489522028E07242933
chr48943669389437209E073-40892
chr48944349189443535E073-34566
chr48944610589446149E073-31952
chr48944657789446675E073-31426
chr48951229489512334E07334193
chr48951529289515373E07337191
chr48952079989520978E07342698
chr48943669389437209E074-40892
chr48944349189443535E074-34566
chr48949469089495158E07416589
chr48949523589495425E07417134
chr48949650189496650E07418400
chr48951229489512334E07434193
chr48951874289518909E07440641
chr48951909289519859E07440991
chr48951992689520005E07441825
chr48952009489520166E07441993
chr48952033789520392E07442236
chr48952063689520757E07442535
chr48952079989520978E07442698
chr48952103489522028E07442933
chr48952255889522674E07444457
chr48944349189443535E081-34566
chr48949425089494372E08116149
chr48949459189494689E08116490
chr48949469089495158E08116589
chr48949523589495425E08117134
chr48950370389503940E08125602
chr48950397189504110E08125870
chr48951229489512334E08134193
chr48951766089517716E08139559
chr48951874289518909E08140641
chr48951909289519859E08140991
chr48951992689520005E08141825
chr48952009489520166E08141993
chr48952033789520392E08142236
chr48952255889522674E08144457
chr48944270789442862E082-35239
chr48944349189443535E082-34566
chr48949523589495425E08217134
chr48949600589496049E08217904
chr48949650189496650E08218400
chr48951992689520005E08241825
chr48952009489520166E08241993










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr48944386489445651E067-32450
chr48951245589514990E06734354
chr48944386489445651E068-32450
chr48951245589514990E06834354
chr48944386489445651E069-32450
chr48951245589514990E06934354
chr48944386489445651E070-32450
chr48951245589514990E07034354
chr48944386489445651E071-32450
chr48951245589514990E07134354
chr48944386489445651E072-32450
chr48951245589514990E07234354
chr48944386489445651E073-32450
chr48951245589514990E07334354
chr48944386489445651E074-32450
chr48951245589514990E07434354
chr48944386489445651E081-32450
chr48951245589514990E08134354
chr48944386489445651E082-32450
chr48951245589514990E08234354