rs4739627

Homo sapiens
A>G
SNX16 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0343 (10262/29874,GnomAD)
A==0360 (10505/29118,TOPMED)
A==0397 (1987/5008,1000G)
A==0333 (1282/3854,ALSPAC)
A==0320 (1188/3708,TWINSUK)
chr8:81822422 (GRCh38.p7) (8q21.13)
AD
GWASdb2
1   publication(s)
See rs on genome
94 Enhancers around
39 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.81822422A>G
GRCh37.p13 chr 8NC_000008.10:g.82734657A>G

Gene: SNX16, sorting nexin 16(minus strand)

Molecule type Change Amino acid[Codon] SO Term
SNX16 transcript variant 1NM_022133.3:c.N/AIntron Variant
SNX16 transcript variant 2NM_152836.2:c.N/AIntron Variant
SNX16 transcript variant 3NM_152837.2:c.N/AIntron Variant
SNX16 transcript variant X1XM_005251282.4:c.N/AIntron Variant
SNX16 transcript variant X2XM_005251283.2:c.N/AIntron Variant
SNX16 transcript variant X3XM_011517574.2:c.N/AIntron Variant
SNX16 transcript variant X3XR_001745572.1:n.N/AIntron Variant
SNX16 transcript variant X5XR_001745573.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.376G=0.624
1000GenomesAmericanSub694A=0.390G=0.610
1000GenomesEast AsianSub1008A=0.597G=0.403
1000GenomesEuropeSub1006A=0.327G=0.673
1000GenomesGlobalStudy-wide5008A=0.397G=0.603
1000GenomesSouth AsianSub978A=0.290G=0.710
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.333G=0.667
The Genome Aggregation DatabaseAfricanSub8692A=0.368G=0.632
The Genome Aggregation DatabaseAmericanSub828A=0.320G=0.680
The Genome Aggregation DatabaseEast AsianSub1608A=0.633G=0.367
The Genome Aggregation DatabaseEuropeSub18446A=0.307G=0.692
The Genome Aggregation DatabaseGlobalStudy-wide29874A=0.343G=0.656
The Genome Aggregation DatabaseOtherSub300A=0.370G=0.630
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.360G=0.639
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.320G=0.680
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
rs47396273E-05alcohol consumption23743675

eQTL of rs4739627 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 rs4739627 in Fetal Brain

Probe ID Position Gene beta p-value
cg17211192chr8:82754475SNX160.06482078975211631.1897e-26
cg27398817chr8:82754497SNX160.03831897822715894.2717e-15
cg23324259chr8:82754387SNX160.01768749997089576.1498e-14

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 )
chr88272692182727044E067-7613
chr88272708482727145E067-7512
chr88272739782727713E067-6944
chr88275141582751459E06716758
chr88275155182751632E06716894
chr88275169382751743E06717036
chr88275176982751905E06717112
chr88275192082751978E06717263
chr88275205182752101E06717394
chr88275213682752286E06717479
chr88275242482752500E06717767
chr88275252382752586E06717866
chr88274913582749745E06814478
chr88275040382750493E06815746
chr88275055782750622E06815900
chr88275073382750913E06816076
chr88275118682751259E06816529
chr88275141582751459E06816758
chr88275155182751632E06816894
chr88275169382751743E06817036
chr88275242482752500E06817767
chr88275252382752586E06817866
chr88275264882752702E06817991
chr88275205182752101E06917394
chr88275213682752286E06917479
chr88275242482752500E06917767
chr88275252382752586E06917866
chr88275264882752702E06917991
chr88270876682709232E070-25425
chr88270927582709325E070-25332
chr88270935482709440E070-25217
chr88273635982736422E0701702
chr88273760682737656E0702949
chr88273770482737783E0703047
chr88274913582749745E07014478
chr88272692182727044E071-7613
chr88272739782727713E071-6944
chr88275040382750493E07115746
chr88275055782750622E07115900
chr88275073382750913E07116076
chr88275176982751905E07117112
chr88275192082751978E07117263
chr88275205182752101E07117394
chr88275213682752286E07117479
chr88275242482752500E07117767
chr88275252382752586E07117866
chr88275264882752702E07117991
chr88277068982771569E07136032
chr88269268482693377E072-41280
chr88272629482726439E072-8218
chr88272692182727044E072-7613
chr88272708482727145E072-7512
chr88272739782727713E072-6944
chr88272739782727713E073-6944
chr88272692182727044E074-7613
chr88275040382750493E07415746
chr88275055782750622E07415900
chr88275073382750913E07416076
chr88275118682751259E07416529
chr88275141582751459E07416758
chr88275155182751632E07416894
chr88275169382751743E07417036
chr88275176982751905E07417112
chr88275192082751978E07417263
chr88275205182752101E07417394
chr88275213682752286E07417479
chr88275242482752500E07417767
chr88275252382752586E07417866
chr88275264882752702E07417991
chr88269268482693377E081-41280
chr88274894182748991E08114284
chr88275118682751259E08116529
chr88275141582751459E08116758
chr88275155182751632E08116894
chr88275169382751743E08117036
chr88275176982751905E08117112
chr88275192082751978E08117263
chr88275205182752101E08117394
chr88275213682752286E08117479
chr88275242482752500E08117767
chr88275252382752586E08117866
chr88275264882752702E08117991
chr88269939382699447E082-35210
chr88269957982699654E082-35003
chr88274913582749745E08214478
chr88274982582749873E08215168
chr88275155182751632E08216894
chr88275169382751743E08217036
chr88275176982751905E08217112
chr88275192082751978E08217263
chr88275205182752101E08217394
chr88275213682752286E08217479
chr88275242482752500E08217767
chr88275252382752586E08217866










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr88275290282753069E06718245
chr88275314082753307E06718483
chr88275349982753591E06718842
chr88275360282754599E06718945
chr88275349982753591E06818842
chr88275360282754599E06818945
chr88275461982755486E06819962
chr88275290282753069E06918245
chr88275314082753307E06918483
chr88275349982753591E06918842
chr88275360282754599E06918945
chr88275290282753069E07018245
chr88275314082753307E07018483
chr88275349982753591E07018842
chr88275360282754599E07018945
chr88275290282753069E07118245
chr88275314082753307E07118483
chr88275349982753591E07118842
chr88275360282754599E07118945
chr88275461982755486E07119962
chr88275290282753069E07218245
chr88275314082753307E07218483
chr88275349982753591E07218842
chr88275360282754599E07218945
chr88275290282753069E07318245
chr88275314082753307E07318483
chr88275349982753591E07318842
chr88275360282754599E07318945
chr88275461982755486E07319962
chr88275314082753307E07418483
chr88275349982753591E07418842
chr88275360282754599E07418945
chr88275461982755486E07419962
chr88275360282754599E08118945
chr88275290282753069E08218245
chr88275314082753307E08218483
chr88275349982753591E08218842
chr88275360282754599E08218945
chr88275461982755486E08219962