rs1982176

Homo sapiens
A>C
ANKFY1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0092 (2757/29936,GnomAD)
A==0138 (4038/29118,TOPMED)
A==0086 (430/5008,1000G)
A==0001 (3/3854,ALSPAC)
A==0000 (1/3708,TWINSUK)
chr17:4171101 (GRCh38.p7) (17p13.2)
AD
GWASdb2
1   publication(s)
See rs on genome
162 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 17NC_000017.11:g.4171101A>C
GRCh37.p13 chr 17NC_000017.10:g.4074395A>C

Gene: ANKFY1, ankyrin repeat and FYVE domain containing 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ANKFY1 transcript variant 3NM_001257999.1:c.N/AIntron Variant
ANKFY1 transcript variant 1NM_016376.3:c.N/AIntron Variant
ANKFY1 transcript variant 4NR_047571.1:n.N/AIntron Variant
ANKFY1 transcript variant X3XM_005256679.3:c.N/AIntron Variant
ANKFY1 transcript variant X2XM_011523926.1:c.N/AIntron Variant
ANKFY1 transcript variant X3XM_011523928.2:c.N/AIntron Variant
ANKFY1 transcript variant X5XM_011523933.1:c.N/AIntron Variant
ANKFY1 transcript variant X1XM_017024733.1:c.N/AIntron Variant
ANKFY1 transcript variant X4XR_934043.2:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.317C=0.683
1000GenomesAmericanSub694A=0.020C=0.980
1000GenomesEast AsianSub1008A=0.000C=1.000
1000GenomesEuropeSub1006A=0.000C=1.000
1000GenomesGlobalStudy-wide5008A=0.086C=0.914
1000GenomesSouth AsianSub978A=0.000C=1.000
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.001C=0.999
The Genome Aggregation DatabaseAfricanSub8700A=0.313C=0.687
The Genome Aggregation DatabaseAmericanSub838A=0.020C=0.980
The Genome Aggregation DatabaseEast AsianSub1622A=0.000C=1.000
The Genome Aggregation DatabaseEuropeSub18474A=0.000C=0.999
The Genome Aggregation DatabaseGlobalStudy-wide29936A=0.092C=0.907
The Genome Aggregation DatabaseOtherSub302A=0.000C=1.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.138C=0.861
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.000C=1.000
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
rs19821760.00039alcohol dependence20201924

eQTL of rs1982176 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 rs1982176 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 )
chr1740289204028980E067-45415
chr1740339774034548E067-39847
chr1740366824036722E067-37673
chr1740377114038456E067-35939
chr1740385414038633E067-35762
chr1740387934038961E067-35434
chr1740389954039075E067-35320
chr1740391584039236E067-35159
chr1740394934039543E067-34852
chr1740397144040124E067-34271
chr1740401634040223E067-34172
chr1740413354041639E067-32756
chr1740417044041788E067-32607
chr1740418214041901E067-32494
chr1740419104042224E067-32171
chr1740422684043033E067-31362
chr1740431064043158E067-31237
chr1740432314043281E067-31114
chr1740433014044101E067-30294
chr1740642594065504E067-8891
chr1741132554113354E06738860
chr1740397144040124E068-34271
chr1740401634040223E068-34172
chr1740432314043281E068-31114
chr1740433014044101E068-30294
chr1740642594065504E068-8891
chr1740657244065801E068-8594
chr1740658404066812E068-7583
chr1740281984028324E069-46071
chr1740283944028573E069-45822
chr1740304134030463E069-43932
chr1740310294031110E069-43285
chr1740377114038456E069-35939
chr1740385414038633E069-35762
chr1740387934038961E069-35434
chr1740389954039075E069-35320
chr1740391584039236E069-35159
chr1740394934039543E069-34852
chr1740397144040124E069-34271
chr1740401634040223E069-34172
chr1740409544041318E069-33077
chr1740413354041639E069-32756
chr1740417044041788E069-32607
chr1740418214041901E069-32494
chr1740432314043281E069-31114
chr1740433014044101E069-30294
chr1740442324044282E069-30113
chr1740445024044552E069-29843
chr1740445924044642E069-29753
chr1740446734044780E069-29615
chr1740483794048429E069-25966
chr1740484764048905E069-25490
chr1740489224049108E069-25287
chr1740500324050233E069-24162
chr1740506054050707E069-23688
chr1740511454051308E069-23087
chr1740513794051489E069-22906
chr1740642594065504E069-8891
chr1740657244065801E069-8594
chr1740939664094243E06919571
chr1741075444108652E06933149
chr1741129984113195E06938603
chr1741132554113354E06938860
chr1740397144040124E070-34271
chr1740401634040223E070-34172
chr1740409544041318E070-33077
chr1740413354041639E070-32756
chr1740417044041788E070-32607
chr1740433014044101E070-30294
chr1740339774034548E071-39847
chr1740377114038456E071-35939
chr1740385414038633E071-35762
chr1740387934038961E071-35434
chr1740389954039075E071-35320
chr1740391584039236E071-35159
chr1740394934039543E071-34852
chr1740397144040124E071-34271
chr1740401634040223E071-34172
chr1740431064043158E071-31237
chr1740432314043281E071-31114
chr1740433014044101E071-30294
chr1740442324044282E071-30113
chr1740445024044552E071-29843
chr1740445924044642E071-29753
chr1740446734044780E071-29615
chr1740483794048429E071-25966
chr1740511454051308E071-23087
chr1740513794051489E071-22906
chr1740642594065504E071-8891
chr1740657244065801E071-8594
chr1740658404066812E071-7583
chr1740932914093343E07118896
chr1741075444108652E07133149
chr1741129984113195E07138603
chr1741132554113354E07138860
chr1741134824113552E07139087
chr1740338244033936E072-40459
chr1740339774034548E072-39847
chr1740377114038456E072-35939
chr1740385414038633E072-35762
chr1740387934038961E072-35434
chr1740389954039075E072-35320
chr1740397144040124E072-34271
chr1740401634040223E072-34172
chr1740422684043033E072-31362
chr1740431064043158E072-31237
chr1740432314043281E072-31114
chr1740433014044101E072-30294
chr1740442324044282E072-30113
chr1740445024044552E072-29843
chr1740445924044642E072-29753
chr1740446734044780E072-29615
chr1740511454051308E072-23087
chr1740513794051489E072-22906
chr1740642594065504E072-8891
chr1740657244065801E072-8594
chr1740658404066812E072-7583
chr1741128144112864E07238419
chr1741129984113195E07238603
chr1741132554113354E07238860
chr1740283944028573E073-45822
chr1740397144040124E073-34271
chr1740401634040223E073-34172
chr1740409544041318E073-33077
chr1740413354041639E073-32756
chr1740431064043158E073-31237
chr1740432314043281E073-31114
chr1740433014044101E073-30294
chr1740445024044552E073-29843
chr1740445924044642E073-29753
chr1740446734044780E073-29615
chr1740642594065504E073-8891
chr1740657244065801E073-8594
chr1740658404066812E073-7583
chr1740709584071088E073-3307
chr1740711614071379E073-3016
chr1740984144098505E07324019
chr1740986524099083E07324257
chr1740401634040223E074-34172
chr1740432314043281E074-31114
chr1740433014044101E074-30294
chr1740445924044642E074-29753
chr1740446734044780E074-29615
chr1740511454051308E074-23087
chr1740513794051489E074-22906
chr1740642594065504E074-8891
chr1740657244065801E074-8594
chr1740658404066812E074-7583
chr1741128144112864E07438419
chr1741129984113195E07438603
chr1741132554113354E07438860
chr1741134824113552E07439087
chr1740432314043281E081-31114
chr1740433014044101E081-30294
chr1740442324044282E081-30113
chr1740445024044552E081-29843
chr1740445924044642E081-29753
chr1740446734044780E081-29615
chr1740483794048429E081-25966
chr1740484764048905E081-25490
chr1740445924044642E082-29753
chr1740446734044780E082-29615










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1740453994048056E067-26339
chr1740453994048056E068-26339
chr1740453994048056E069-26339
chr1740453994048056E070-26339
chr1740453994048056E071-26339
chr1740453994048056E072-26339
chr1740453994048056E073-26339
chr1740453994048056E074-26339
chr1740453994048056E081-26339
chr1740453994048056E082-26339