rs1619021

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G==0366 (10958/29938,GnomAD)
G==0443 (12898/29118,TOPMED)
G==0355 (1776/5008,1000G)
G==0254 (979/3854,ALSPAC)
G==0262 (973/3708,TWINSUK)

Position: chr17:39583021 (GRCh38.p7) (17q12)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 335 Enhancers around

Promoter: 64 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 17	NC_000017.11:g.39583021G>A
GRCh37.p13 chr 17	NC_000017.10:g.37739274G>A

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.706	A=0.294
1000Genomes	American	Sub	694	G=0.330	A=0.670
1000Genomes	East Asian	Sub	1008	G=0.262	A=0.738
1000Genomes	Europe	Sub	1006	G=0.250	A=0.750
1000Genomes	Global	Study-wide	5008	G=0.355	A=0.645
1000Genomes	South Asian	Sub	978	G=0.100	A=0.900
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.254	A=0.746
The Genome Aggregation Database	African	Sub	8722	G=0.658	A=0.342
The Genome Aggregation Database	American	Sub	834	G=0.300	A=0.700
The Genome Aggregation Database	East Asian	Sub	1616	G=0.306	A=0.694
The Genome Aggregation Database	Europe	Sub	18464	G=0.236	A=0.763
The Genome Aggregation Database	Global	Study-wide	29938	G=0.366	A=0.634
The Genome Aggregation Database	Other	Sub	302	G=0.350	A=0.650
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.443	A=0.557
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.262	A=0.738

PMID	Title	Author	Journal
20201924	Genome-wide association study of alcohol dependence implicates a region on chromosome 11.	Edenberg HJ	Alcohol Clin Exp Res

P-Value

SNP ID	p-value	Traits	Study
rs1619021	0.000169	alcohol dependence	20201924

eQTL of rs1619021 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 rs1619021 in Fetal Brain

Probe ID	Position	Gene	beta	p-value
cg07936489	chr17:37558343	FBXL20	0.0186045981735811	3.1965e-13
cg15445000	chr17:37608096	MED1	-0.0457640416886072	1.0258e-11
cg20243544	chr17:37824526	PNMT	-0.0144833305448706	1.0766e-9
cg00129232	chr17:37814104	STARD3	0.00596368326626698	1.1285e-9
cg07936489	chr17:37558343	FBXL20	0.018604598	3.2000e-13

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 )
chr17	37728485	37728767	E067	-10507
chr17	37729033	37729184	E067	-10090
chr17	37729193	37729316	E067	-9958
chr17	37779009	37779069	E067	39735
chr17	37779217	37779345	E067	39943
chr17	37779387	37779486	E067	40113
chr17	37787413	37788130	E067	48139
chr17	37717356	37717425	E068	-21849
chr17	37717464	37717514	E068	-21760
chr17	37719197	37719618	E068	-19656
chr17	37719791	37720096	E068	-19178
chr17	37720229	37720303	E068	-18971
chr17	37720317	37720947	E068	-18327
chr17	37725427	37725737	E068	-13537
chr17	37725884	37726075	E068	-13199
chr17	37777944	37778906	E068	38670
chr17	37779009	37779069	E068	39735
chr17	37779217	37779345	E068	39943
chr17	37779387	37779486	E068	40113
chr17	37779538	37780195	E068	40264
chr17	37781331	37781394	E068	42057
chr17	37719791	37720096	E069	-19178
chr17	37720229	37720303	E069	-18971
chr17	37720317	37720947	E069	-18327
chr17	37725427	37725737	E069	-13537
chr17	37728485	37728767	E069	-10507
chr17	37729033	37729184	E069	-10090
chr17	37729193	37729316	E069	-9958
chr17	37777944	37778906	E069	38670
chr17	37779009	37779069	E069	39735
chr17	37779217	37779345	E069	39943
chr17	37779387	37779486	E069	40113
chr17	37704820	37705114	E070	-34160
chr17	37705133	37705247	E070	-34027
chr17	37705250	37705451	E070	-33823
chr17	37711731	37711952	E070	-27322
chr17	37712456	37712574	E070	-26700
chr17	37712575	37712739	E070	-26535
chr17	37712763	37712972	E070	-26302
chr17	37713079	37713129	E070	-26145
chr17	37713691	37713773	E070	-25501
chr17	37713887	37713947	E070	-25327
chr17	37713977	37714039	E070	-25235
chr17	37714072	37714122	E070	-25152
chr17	37717290	37717340	E070	-21934
chr17	37717356	37717425	E070	-21849
chr17	37717464	37717514	E070	-21760
chr17	37717697	37718041	E070	-21233
chr17	37718627	37719124	E070	-20150
chr17	37720317	37720947	E070	-18327
chr17	37720980	37721182	E070	-18092
chr17	37721217	37721328	E070	-17946
chr17	37722470	37722570	E070	-16704
chr17	37722606	37723060	E070	-16214
chr17	37723479	37723574	E070	-15700
chr17	37724008	37724224	E070	-15050
chr17	37724473	37724531	E070	-14743
chr17	37725427	37725737	E070	-13537
chr17	37725884	37726075	E070	-13199
chr17	37726109	37726173	E070	-13101
chr17	37726312	37726378	E070	-12896
chr17	37726451	37726495	E070	-12779
chr17	37726526	37726579	E070	-12695
chr17	37726591	37726666	E070	-12608
chr17	37727769	37727819	E070	-11455
chr17	37728331	37728448	E070	-10826
chr17	37728485	37728767	E070	-10507
chr17	37729033	37729184	E070	-10090
chr17	37729193	37729316	E070	-9958
chr17	37732098	37732189	E070	-7085
chr17	37732404	37732507	E070	-6767
chr17	37732544	37732815	E070	-6459
chr17	37732931	37732981	E070	-6293
chr17	37732993	37733111	E070	-6163
chr17	37735033	37735118	E070	-4156
chr17	37735232	37735323	E070	-3951
chr17	37735441	37735902	E070	-3372
chr17	37735907	37736488	E070	-2786
chr17	37747809	37747849	E070	8535
chr17	37747871	37747986	E070	8597
chr17	37748054	37749114	E070	8780
chr17	37772976	37773095	E070	33702
chr17	37773125	37773175	E070	33851
chr17	37777944	37778906	E070	38670
chr17	37779009	37779069	E070	39735
chr17	37779217	37779345	E070	39943
chr17	37779387	37779486	E070	40113
chr17	37779538	37780195	E070	40264
chr17	37784820	37785016	E070	45546
chr17	37785202	37786082	E070	45928
chr17	37720229	37720303	E071	-18971
chr17	37720317	37720947	E071	-18327
chr17	37748054	37749114	E071	8780
chr17	37777944	37778906	E071	38670
chr17	37779009	37779069	E071	39735
chr17	37779217	37779345	E071	39943
chr17	37779387	37779486	E071	40113
chr17	37779538	37780195	E071	40264
chr17	37787413	37788130	E071	48139
chr17	37709454	37710157	E072	-29117
chr17	37725427	37725737	E072	-13537
chr17	37725884	37726075	E072	-13199
chr17	37726109	37726173	E072	-13101
chr17	37726312	37726378	E072	-12896
chr17	37728485	37728767	E072	-10507
chr17	37729033	37729184	E072	-10090
chr17	37729193	37729316	E072	-9958
chr17	37777944	37778906	E072	38670
chr17	37779009	37779069	E072	39735
chr17	37779217	37779345	E072	39943
chr17	37779387	37779486	E072	40113
chr17	37779538	37780195	E072	40264
chr17	37785202	37786082	E072	45928
chr17	37719197	37719618	E073	-19656
chr17	37719791	37720096	E073	-19178
chr17	37720229	37720303	E073	-18971
chr17	37720317	37720947	E073	-18327
chr17	37725427	37725737	E073	-13537
chr17	37732404	37732507	E073	-6767
chr17	37732544	37732815	E073	-6459
chr17	37732931	37732981	E073	-6293
chr17	37732993	37733111	E073	-6163
chr17	37775826	37775879	E073	36552
chr17	37779009	37779069	E073	39735
chr17	37779217	37779345	E073	39943
chr17	37779387	37779486	E073	40113
chr17	37779538	37780195	E073	40264
chr17	37780244	37780485	E073	40970
chr17	37781331	37781394	E073	42057
chr17	37779009	37779069	E074	39735
chr17	37779217	37779345	E074	39943
chr17	37779387	37779486	E074	40113
chr17	37779538	37780195	E074	40264
chr17	37703929	37704658	E081	-34616
chr17	37704820	37705114	E081	-34160
chr17	37705133	37705247	E081	-34027
chr17	37705250	37705451	E081	-33823
chr17	37708024	37708319	E081	-30955
chr17	37708331	37708457	E081	-30817
chr17	37708578	37708660	E081	-30614
chr17	37711731	37711952	E081	-27322
chr17	37712456	37712574	E081	-26700
chr17	37712575	37712739	E081	-26535
chr17	37712763	37712972	E081	-26302
chr17	37713079	37713129	E081	-26145
chr17	37713691	37713773	E081	-25501
chr17	37717290	37717340	E081	-21934
chr17	37717356	37717425	E081	-21849
chr17	37717464	37717514	E081	-21760
chr17	37717697	37718041	E081	-21233
chr17	37718627	37719124	E081	-20150
chr17	37719197	37719618	E081	-19656
chr17	37719791	37720096	E081	-19178
chr17	37720317	37720947	E081	-18327
chr17	37720980	37721182	E081	-18092
chr17	37721217	37721328	E081	-17946
chr17	37722025	37722147	E081	-17127
chr17	37722470	37722570	E081	-16704
chr17	37722606	37723060	E081	-16214
chr17	37723479	37723574	E081	-15700
chr17	37724008	37724224	E081	-15050
chr17	37724473	37724531	E081	-14743
chr17	37725427	37725737	E081	-13537
chr17	37725884	37726075	E081	-13199
chr17	37726109	37726173	E081	-13101
chr17	37726312	37726378	E081	-12896
chr17	37726451	37726495	E081	-12779
chr17	37726526	37726579	E081	-12695
chr17	37726591	37726666	E081	-12608
chr17	37727769	37727819	E081	-11455
chr17	37728331	37728448	E081	-10826
chr17	37728485	37728767	E081	-10507
chr17	37729033	37729184	E081	-10090
chr17	37729193	37729316	E081	-9958
chr17	37731042	37731295	E081	-7979
chr17	37731335	37731409	E081	-7865
chr17	37731476	37731632	E081	-7642
chr17	37731905	37731945	E081	-7329
chr17	37732098	37732189	E081	-7085
chr17	37732404	37732507	E081	-6767
chr17	37732544	37732815	E081	-6459
chr17	37732931	37732981	E081	-6293
chr17	37732993	37733111	E081	-6163
chr17	37734706	37734756	E081	-4518
chr17	37735033	37735118	E081	-4156
chr17	37735232	37735323	E081	-3951
chr17	37735441	37735902	E081	-3372
chr17	37735907	37736488	E081	-2786
chr17	37737555	37737605	E081	-1669
chr17	37737907	37738304	E081	-970
chr17	37738339	37738389	E081	-885
chr17	37738443	37738658	E081	-616
chr17	37747284	37747343	E081	8010
chr17	37747809	37747849	E081	8535
chr17	37747871	37747986	E081	8597
chr17	37748054	37749114	E081	8780
chr17	37749433	37749525	E081	10159
chr17	37749681	37749731	E081	10407
chr17	37749752	37749813	E081	10478
chr17	37749861	37749915	E081	10587
chr17	37749991	37750041	E081	10717
chr17	37750129	37750179	E081	10855
chr17	37750480	37750543	E081	11206
chr17	37750546	37750603	E081	11272
chr17	37751030	37751080	E081	11756
chr17	37751120	37751186	E081	11846
chr17	37765656	37765725	E081	26382
chr17	37765770	37765831	E081	26496
chr17	37765925	37766023	E081	26651
chr17	37766075	37766143	E081	26801
chr17	37766180	37766252	E081	26906
chr17	37767316	37767381	E081	28042
chr17	37767483	37767545	E081	28209
chr17	37767597	37768271	E081	28323
chr17	37768369	37768496	E081	29095
chr17	37769245	37769489	E081	29971
chr17	37769502	37769881	E081	30228
chr17	37769918	37770070	E081	30644
chr17	37770154	37770208	E081	30880
chr17	37770213	37770328	E081	30939
chr17	37771723	37772058	E081	32449
chr17	37772176	37772264	E081	32902
chr17	37772273	37772323	E081	32999
chr17	37772368	37772439	E081	33094
chr17	37772804	37772854	E081	33530
chr17	37772976	37773095	E081	33702
chr17	37773125	37773175	E081	33851
chr17	37775826	37775879	E081	36552
chr17	37775884	37776292	E081	36610
chr17	37777127	37777314	E081	37853
chr17	37777321	37777404	E081	38047
chr17	37777536	37777648	E081	38262
chr17	37777677	37777891	E081	38403
chr17	37777944	37778906	E081	38670
chr17	37779009	37779069	E081	39735
chr17	37779217	37779345	E081	39943
chr17	37779387	37779486	E081	40113
chr17	37779538	37780195	E081	40264
chr17	37780244	37780485	E081	40970
chr17	37780753	37780899	E081	41479
chr17	37784538	37784784	E081	45264
chr17	37784820	37785016	E081	45546
chr17	37785108	37785199	E081	45834
chr17	37785202	37786082	E081	45928
chr17	37704820	37705114	E082	-34160
chr17	37709038	37709111	E082	-30163
chr17	37709454	37710157	E082	-29117
chr17	37712456	37712574	E082	-26700
chr17	37712575	37712739	E082	-26535
chr17	37712763	37712972	E082	-26302
chr17	37713079	37713129	E082	-26145
chr17	37714412	37714462	E082	-24812
chr17	37715983	37716059	E082	-23215
chr17	37716459	37716503	E082	-22771
chr17	37716899	37716949	E082	-22325
chr17	37716974	37717024	E082	-22250
chr17	37717290	37717340	E082	-21934
chr17	37717356	37717425	E082	-21849
chr17	37717464	37717514	E082	-21760
chr17	37717697	37718041	E082	-21233
chr17	37718627	37719124	E082	-20150
chr17	37719197	37719618	E082	-19656
chr17	37720980	37721182	E082	-18092
chr17	37721217	37721328	E082	-17946
chr17	37722025	37722147	E082	-17127
chr17	37722470	37722570	E082	-16704
chr17	37722606	37723060	E082	-16214
chr17	37723479	37723574	E082	-15700
chr17	37724008	37724224	E082	-15050
chr17	37724473	37724531	E082	-14743
chr17	37725427	37725737	E082	-13537
chr17	37725884	37726075	E082	-13199
chr17	37726109	37726173	E082	-13101
chr17	37726312	37726378	E082	-12896
chr17	37726451	37726495	E082	-12779
chr17	37726526	37726579	E082	-12695
chr17	37726591	37726666	E082	-12608
chr17	37727769	37727819	E082	-11455
chr17	37728331	37728448	E082	-10826
chr17	37731042	37731295	E082	-7979
chr17	37731335	37731409	E082	-7865
chr17	37731476	37731632	E082	-7642
chr17	37731905	37731945	E082	-7329
chr17	37732098	37732189	E082	-7085
chr17	37732404	37732507	E082	-6767
chr17	37732544	37732815	E082	-6459
chr17	37732931	37732981	E082	-6293
chr17	37732993	37733111	E082	-6163
chr17	37734111	37734251	E082	-5023
chr17	37734300	37734340	E082	-4934
chr17	37734349	37734454	E082	-4820
chr17	37734706	37734756	E082	-4518
chr17	37735033	37735118	E082	-4156
chr17	37735232	37735323	E082	-3951
chr17	37735441	37735902	E082	-3372
chr17	37735907	37736488	E082	-2786
chr17	37747809	37747849	E082	8535
chr17	37747871	37747986	E082	8597
chr17	37748054	37749114	E082	8780
chr17	37749433	37749525	E082	10159
chr17	37749681	37749731	E082	10407
chr17	37749752	37749813	E082	10478
chr17	37749861	37749915	E082	10587
chr17	37749991	37750041	E082	10717
chr17	37750129	37750179	E082	10855
chr17	37765656	37765725	E082	26382
chr17	37765770	37765831	E082	26496
chr17	37765925	37766023	E082	26651
chr17	37766075	37766143	E082	26801
chr17	37766180	37766252	E082	26906
chr17	37767316	37767381	E082	28042
chr17	37767483	37767545	E082	28209
chr17	37767597	37768271	E082	28323
chr17	37768369	37768496	E082	29095
chr17	37769245	37769489	E082	29971
chr17	37769502	37769881	E082	30228
chr17	37771723	37772058	E082	32449
chr17	37772176	37772264	E082	32902
chr17	37772273	37772323	E082	32999
chr17	37772804	37772854	E082	33530
chr17	37772976	37773095	E082	33702
chr17	37773125	37773175	E082	33851
chr17	37775826	37775879	E082	36552
chr17	37775884	37776292	E082	36610
chr17	37777127	37777314	E082	37853
chr17	37777321	37777404	E082	38047
chr17	37777536	37777648	E082	38262
chr17	37777677	37777891	E082	38403
chr17	37777944	37778906	E082	38670
chr17	37779009	37779069	E082	39735
chr17	37779217	37779345	E082	39943
chr17	37779387	37779486	E082	40113
chr17	37779538	37780195	E082	40264
chr17	37780244	37780485	E082	40970
chr17	37786151	37786621	E082	46877

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr17	37729550	37729616	E067	-9658
chr17	37729621	37730632	E067	-8642
chr17	37773218	37775772	E067	33944
chr17	37782556	37783592	E067	43282
chr17	37783619	37783733	E067	44345
chr17	37783780	37783941	E067	44506
chr17	37784060	37784319	E067	44786
chr17	37784398	37784489	E067	45124
chr17	37729550	37729616	E068	-9658
chr17	37729621	37730632	E068	-8642
chr17	37773218	37775772	E068	33944
chr17	37782556	37783592	E068	43282
chr17	37783619	37783733	E068	44345
chr17	37783780	37783941	E068	44506
chr17	37784060	37784319	E068	44786
chr17	37784398	37784489	E068	45124
chr17	37729550	37729616	E069	-9658
chr17	37729621	37730632	E069	-8642
chr17	37773218	37775772	E069	33944
chr17	37782556	37783592	E069	43282
chr17	37783619	37783733	E069	44345
chr17	37783780	37783941	E069	44506
chr17	37784060	37784319	E069	44786
chr17	37784398	37784489	E069	45124
chr17	37729550	37729616	E070	-9658
chr17	37729621	37730632	E070	-8642
chr17	37773218	37775772	E070	33944
chr17	37783780	37783941	E070	44506
chr17	37784060	37784319	E070	44786
chr17	37784398	37784489	E070	45124
chr17	37729550	37729616	E071	-9658
chr17	37729621	37730632	E071	-8642
chr17	37773218	37775772	E071	33944
chr17	37783619	37783733	E071	44345
chr17	37783780	37783941	E071	44506
chr17	37784060	37784319	E071	44786
chr17	37784398	37784489	E071	45124
chr17	37729550	37729616	E072	-9658
chr17	37729621	37730632	E072	-8642
chr17	37773218	37775772	E072	33944
chr17	37782556	37783592	E072	43282
chr17	37783619	37783733	E072	44345
chr17	37783780	37783941	E072	44506
chr17	37784060	37784319	E072	44786
chr17	37784398	37784489	E072	45124
chr17	37729550	37729616	E073	-9658
chr17	37729621	37730632	E073	-8642
chr17	37773218	37775772	E073	33944
chr17	37782556	37783592	E073	43282
chr17	37783619	37783733	E073	44345
chr17	37783780	37783941	E073	44506
chr17	37784060	37784319	E073	44786
chr17	37784398	37784489	E073	45124
chr17	37729621	37730632	E074	-8642
chr17	37773218	37775772	E074	33944
chr17	37782556	37783592	E074	43282
chr17	37783619	37783733	E074	44345
chr17	37783780	37783941	E074	44506
chr17	37784060	37784319	E074	44786
chr17	37784398	37784489	E074	45124
chr17	37729550	37729616	E082	-9658
chr17	37729621	37730632	E082	-8642
chr17	37773218	37775772	E082	33944
chr17	37783619	37783733	E082	44345