rs1446930

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
C==0162 (4850/29944,GnomAD)
C==0186 (5427/29118,TOPMED)
C==0189 (949/5008,1000G)
C==0176 (678/3854,ALSPAC)
C==0190 (705/3708,TWINSUK)
chr2:237962237 (GRCh38.p7) (2q37.3)
AD
GWASdb2
1   publication(s)
See rs on genome
118 Enhancers around
32 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.237962237C>T
GRCh37.p13 chr 2NC_000002.11:g.238870879C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.237T=0.763
1000GenomesAmericanSub694C=0.190T=0.810
1000GenomesEast AsianSub1008C=0.030T=0.970
1000GenomesEuropeSub1006C=0.164T=0.836
1000GenomesGlobalStudy-wide5008C=0.189T=0.811
1000GenomesSouth AsianSub978C=0.320T=0.680
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.176T=0.824
The Genome Aggregation DatabaseAfricanSub8720C=0.225T=0.775
The Genome Aggregation DatabaseAmericanSub838C=0.180T=0.820
The Genome Aggregation DatabaseEast AsianSub1622C=0.030T=0.970
The Genome Aggregation DatabaseEuropeSub18462C=0.143T=0.856
The Genome Aggregation DatabaseGlobalStudy-wide29944C=0.162T=0.838
The Genome Aggregation DatabaseOtherSub302C=0.110T=0.890
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.186T=0.813
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.190T=0.810
PMID Title Author Journal
23743675A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.Kapoor MHum Genet

P-Value

SNP ID p-value Traits Study
rs14469300.000127alcohol consumption23743675

eQTL of rs1446930 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr2:238870879SCLYENSG00000132330.12C>T7.8532e-10-98651Cerebellum
Chr2:238870879SCLYENSG00000132330.12C>T1.0714e-8-98651Cortex
Chr2:238870879SCLYENSG00000132330.12C>T2.0850e-8-98651Cerebellar_Hemisphere
Chr2:238870879SCLYENSG00000132330.12C>T1.4177e-3-98651Caudate_basal_ganglia
Chr2:238870879SCLYENSG00000132330.12C>T7.2091e-4-98651Anterior_cingulate_cortex

meQTL of rs1446930 in Fetal Brain

Probe ID Position Gene beta p-value
cg03558837chr2:239029375ESPNL0.05358701373132496.1449e-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 )
chr2238834367238834417E067-36462
chr2238877816238878038E0676937
chr2238878398238878539E0677519
chr2238878551238878601E0677672
chr2238878666238878738E0677787
chr2238879158238879263E0678279
chr2238886584238886634E06715705
chr2238886907238887414E06716028
chr2238888018238888228E06717139
chr2238888415238888465E06717536
chr2238888921238888998E06718042
chr2238889558238889737E06718679
chr2238889976238890179E06719097
chr2238893121238893238E06722242
chr2238904560238904874E06733681
chr2238904955238905113E06734076
chr2238917607238917771E06746728
chr2238826026238826224E068-44655
chr2238851806238851846E068-19033
chr2238851954238852295E068-18584
chr2238877816238878038E0686937
chr2238878398238878539E0687519
chr2238878551238878601E0687672
chr2238878666238878738E0687787
chr2238879158238879263E0688279
chr2238886584238886634E06815705
chr2238886907238887414E06816028
chr2238888018238888228E06817139
chr2238888415238888465E06817536
chr2238888921238888998E06818042
chr2238889558238889737E06818679
chr2238889976238890179E06819097
chr2238892164238892276E06821285
chr2238893121238893238E06822242
chr2238840070238840408E069-30471
chr2238877816238878038E0696937
chr2238878398238878539E0697519
chr2238878551238878601E0697672
chr2238878666238878738E0697787
chr2238886584238886634E06915705
chr2238886907238887414E06916028
chr2238888018238888228E06917139
chr2238888921238888998E06918042
chr2238889558238889737E06918679
chr2238893121238893238E06922242
chr2238904955238905113E06934076
chr2238918301238918438E06947422
chr2238919370238919610E06948491
chr2238919757238919867E06948878
chr2238886584238886634E07015705
chr2238886907238887414E07016028
chr2238888921238888998E07018042
chr2238840070238840408E071-30471
chr2238851806238851846E071-19033
chr2238851954238852295E071-18584
chr2238878666238878738E0717787
chr2238879158238879263E0718279
chr2238886011238886062E07115132
chr2238886584238886634E07115705
chr2238886907238887414E07116028
chr2238888018238888228E07117139
chr2238888415238888465E07117536
chr2238888921238888998E07118042
chr2238893121238893238E07122242
chr2238917607238917771E07146728
chr2238917904238917968E07147025
chr2238918301238918438E07147422
chr2238919370238919610E07148491
chr2238919757238919867E07148878
chr2238867147238867197E072-3682
chr2238878551238878601E0727672
chr2238886011238886062E07215132
chr2238886584238886634E07215705
chr2238886907238887414E07216028
chr2238888018238888228E07217139
chr2238888415238888465E07217536
chr2238888921238888998E07218042
chr2238889558238889737E07218679
chr2238893121238893238E07222242
chr2238917607238917771E07246728
chr2238840070238840408E073-30471
chr2238878551238878601E0737672
chr2238878666238878738E0737787
chr2238886011238886062E07315132
chr2238886584238886634E07315705
chr2238886907238887414E07316028
chr2238888018238888228E07317139
chr2238888415238888465E07317536
chr2238888921238888998E07318042
chr2238889558238889737E07318679
chr2238892164238892276E07321285
chr2238893121238893238E07322242
chr2238840070238840408E074-30471
chr2238851954238852295E074-18584
chr2238878551238878601E0747672
chr2238878666238878738E0747787
chr2238879158238879263E0748279
chr2238880434238880549E0749555
chr2238880894238880969E07410015
chr2238884641238884818E07413762
chr2238886011238886062E07415132
chr2238886584238886634E07415705
chr2238886907238887414E07416028
chr2238888921238888998E07418042
chr2238889558238889737E07418679
chr2238889976238890179E07419097
chr2238893121238893238E07422242
chr2238904560238904874E07433681
chr2238904955238905113E07434076
chr2238915164238915422E07444285
chr2238917607238917771E07446728
chr2238917904238917968E07447025
chr2238918301238918438E07447422
chr2238919370238919610E07448491
chr2238919757238919867E07448878
chr2238877816238878038E0816937
chr2238878398238878539E0817519
chr2238886907238887414E08216028










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2238874796238876104E0673917
chr2238876111238876550E0675232
chr2238864688238864740E068-6139
chr2238864741238864973E068-5906
chr2238865051238865134E068-5745
chr2238865144238865248E068-5631
chr2238874796238876104E0683917
chr2238876111238876550E0685232
chr2238865051238865134E069-5745
chr2238865144238865248E069-5631
chr2238874796238876104E0693917
chr2238876111238876550E0695232
chr2238864741238864973E070-5906
chr2238874796238876104E0703917
chr2238876111238876550E0705232
chr2238874796238876104E0713917
chr2238876111238876550E0715232
chr2238874796238876104E0723917
chr2238876111238876550E0725232
chr2238865051238865134E073-5745
chr2238865144238865248E073-5631
chr2238874796238876104E0733917
chr2238876111238876550E0735232
chr2238874796238876104E0743917
chr2238876111238876550E0745232
chr2238876111238876550E0815232
chr2238864688238864740E082-6139
chr2238864741238864973E082-5906
chr2238865051238865134E082-5745
chr2238865144238865248E082-5631
chr2238874796238876104E0823917
chr2238876111238876550E0825232