rs12857536

Organism: Homo sapiens

Alleles: G>T

Gene : Feature

ENOX1 : Non Coding Transcript Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

T=0104 (3137/29986,GnomAD)
T=0093 (2721/29116,TOPMED)
T=0057 (286/5008,1000G)
T=0169 (650/3854,ALSPAC)
T=0177 (656/3708,TWINSUK)

Position: chr13:43309468 (GRCh38.p7) (13q14.11)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 411 Enhancers around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 13	NC_000013.11:g.43309468G>T
GRCh37.p13 chr 13	NC_000013.10:g.43883604G>T

Gene: ENOX1, ecto-NOX disulfide-thiol exchanger 1(minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ENOX1 transcript variant 2	NM_001127615.1:c.	N/A	Intron Variant
ENOX1 transcript variant 3	NM_001242863.1:c.	N/A	Intron Variant
ENOX1 transcript variant 1	NM_017993.3:c.	N/A	Intron Variant
ENOX1 transcript variant X1	XM_005266439.3:c.	N/A	Intron Variant
ENOX1 transcript variant X2	XM_011535126.2:c.	N/A	Intron Variant
ENOX1 transcript variant X5	XM_011535127.2:c.	N/A	Intron Variant
ENOX1 transcript variant X4	XM_011535128.2:c.	N/A	Intron Variant
ENOX1 transcript variant X8	XM_011535132.2:c.	N/A	Intron Variant
ENOX1 transcript variant X3	XM_017020637.1:c.	N/A	Intron Variant
ENOX1 transcript variant X6	XM_017020638.1:c.	N/A	Intron Variant
ENOX1 transcript variant X7	XM_017020639.1:c.	N/A	Intron Variant
ENOX1 transcript variant X9	XM_017020640.1:c.	N/A	Intron Variant
ENOX1 transcript variant X10	XM_017020641.1:c.	N/A	3 Prime UTR Variant
ENOX1 transcript variant X12	XM_017020642.1:c.	N/A	Genic Downstream Transcript Variant
ENOX1 transcript variant X11	XR_001749592.1:n....XR_001749592.1:n.2081C>A	C>A	Non Coding Transcript Variant
ENOX1 transcript variant X13	XR_001749593.1:n.	N/A	Intron Variant
ENOX1 transcript variant X12	XR_001749594.1:n.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.991	T=0.009
1000Genomes	American	Sub	694	G=0.900	T=0.100
1000Genomes	East Asian	Sub	1008	G=1.000	T=0.000
1000Genomes	Europe	Sub	1006	G=0.846	T=0.154
1000Genomes	Global	Study-wide	5008	G=0.943	T=0.057
1000Genomes	South Asian	Sub	978	G=0.950	T=0.050
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.831	T=0.169
The Genome Aggregation Database	African	Sub	8734	G=0.971	T=0.029
The Genome Aggregation Database	American	Sub	838	G=0.910	T=0.090
The Genome Aggregation Database	East Asian	Sub	1622	G=0.999	T=0.001
The Genome Aggregation Database	Europe	Sub	18490	G=0.853	T=0.146
The Genome Aggregation Database	Global	Study-wide	29986	G=0.895	T=0.104
The Genome Aggregation Database	Other	Sub	302	G=0.690	T=0.310
Trans-Omics for Precision Medicine	Global	Study-wide	29116	G=0.906	T=0.093
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.823	T=0.177

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
rs12857536	0.00021	alcohol dependence	20201924

eQTL of rs12857536 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 rs12857536 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 )
chr13	43845055	43845156	E067	-38448
chr13	43845169	43845360	E067	-38244
chr13	43845447	43845497	E067	-38107
chr13	43845507	43845561	E067	-38043
chr13	43876650	43878025	E067	-5579
chr13	43879220	43879333	E067	-4271
chr13	43879638	43879843	E067	-3761
chr13	43880015	43880083	E067	-3521
chr13	43880124	43880370	E067	-3234
chr13	43880435	43880488	E067	-3116
chr13	43880565	43880781	E067	-2823
chr13	43881247	43881402	E067	-2202
chr13	43881457	43881727	E067	-1877
chr13	43881741	43882497	E067	-1107
chr13	43898883	43898933	E067	15279
chr13	43899961	43900073	E067	16357
chr13	43900100	43900181	E067	16496
chr13	43900326	43900433	E067	16722
chr13	43900604	43900716	E067	17000
chr13	43900982	43901032	E067	17378
chr13	43903206	43903279	E067	19602
chr13	43903481	43903535	E067	19877
chr13	43903974	43904056	E067	20370
chr13	43904126	43904209	E067	20522
chr13	43904470	43904530	E067	20866
chr13	43905117	43905224	E067	21513
chr13	43905227	43905291	E067	21623
chr13	43905332	43905468	E067	21728
chr13	43905699	43905779	E067	22095
chr13	43905788	43906237	E067	22184
chr13	43906274	43906384	E067	22670
chr13	43845055	43845156	E068	-38448
chr13	43849142	43849645	E068	-33959
chr13	43876650	43878025	E068	-5579
chr13	43881247	43881402	E068	-2202
chr13	43881457	43881727	E068	-1877
chr13	43881741	43882497	E068	-1107
chr13	43899961	43900073	E068	16357
chr13	43900100	43900181	E068	16496
chr13	43900326	43900433	E068	16722
chr13	43900604	43900716	E068	17000
chr13	43900982	43901032	E068	17378
chr13	43901087	43901137	E068	17483
chr13	43901335	43901479	E068	17731
chr13	43905117	43905224	E068	21513
chr13	43905227	43905291	E068	21623
chr13	43905332	43905468	E068	21728
chr13	43905545	43905595	E068	21941
chr13	43905699	43905779	E068	22095
chr13	43905788	43906237	E068	22184
chr13	43906274	43906384	E068	22670
chr13	43906511	43906587	E068	22907
chr13	43921955	43922104	E068	38351
chr13	43922143	43922265	E068	38539
chr13	43922281	43922384	E068	38677
chr13	43859999	43860601	E069	-23003
chr13	43876650	43878025	E069	-5579
chr13	43878032	43878133	E069	-5471
chr13	43881247	43881402	E069	-2202
chr13	43881457	43881727	E069	-1877
chr13	43881741	43882497	E069	-1107
chr13	43882527	43882593	E069	-1011
chr13	43883042	43883193	E069	-411
chr13	43898883	43898933	E069	15279
chr13	43899961	43900073	E069	16357
chr13	43900100	43900181	E069	16496
chr13	43900326	43900433	E069	16722
chr13	43900604	43900716	E069	17000
chr13	43900982	43901032	E069	17378
chr13	43901087	43901137	E069	17483
chr13	43901335	43901479	E069	17731
chr13	43902827	43902905	E069	19223
chr13	43903206	43903279	E069	19602
chr13	43903481	43903535	E069	19877
chr13	43903974	43904056	E069	20370
chr13	43904126	43904209	E069	20522
chr13	43904470	43904530	E069	20866
chr13	43905117	43905224	E069	21513
chr13	43905227	43905291	E069	21623
chr13	43905332	43905468	E069	21728
chr13	43905545	43905595	E069	21941
chr13	43905699	43905779	E069	22095
chr13	43905788	43906237	E069	22184
chr13	43906274	43906384	E069	22670
chr13	43906511	43906587	E069	22907
chr13	43921955	43922104	E069	38351
chr13	43922143	43922265	E069	38539
chr13	43922281	43922384	E069	38677
chr13	43922555	43923000	E069	38951
chr13	43837088	43837148	E070	-46456
chr13	43837245	43837505	E070	-46099
chr13	43837953	43838057	E070	-45547
chr13	43838178	43838534	E070	-45070
chr13	43838607	43838828	E070	-44776
chr13	43839087	43839293	E070	-44311
chr13	43839351	43839421	E070	-44183
chr13	43839446	43839562	E070	-44042
chr13	43839913	43839965	E070	-43639
chr13	43840215	43840458	E070	-43146
chr13	43840611	43840711	E070	-42893
chr13	43841972	43842093	E070	-41511
chr13	43842859	43844859	E070	-38745
chr13	43845055	43845156	E070	-38448
chr13	43845169	43845360	E070	-38244
chr13	43845447	43845497	E070	-38107
chr13	43845507	43845561	E070	-38043
chr13	43847212	43847478	E070	-36126
chr13	43847550	43847753	E070	-35851
chr13	43849142	43849645	E070	-33959
chr13	43852281	43852578	E070	-31026
chr13	43859560	43859732	E070	-23872
chr13	43859799	43859910	E070	-23694
chr13	43859999	43860601	E070	-23003
chr13	43860824	43861519	E070	-22085
chr13	43872504	43872834	E070	-10770
chr13	43872874	43873376	E070	-10228
chr13	43873919	43874093	E070	-9511
chr13	43874301	43874341	E070	-9263
chr13	43874601	43874771	E070	-8833
chr13	43874773	43876098	E070	-7506
chr13	43876219	43876483	E070	-7121
chr13	43876488	43876634	E070	-6970
chr13	43876650	43878025	E070	-5579
chr13	43878032	43878133	E070	-5471
chr13	43879638	43879843	E070	-3761
chr13	43880015	43880083	E070	-3521
chr13	43880124	43880370	E070	-3234
chr13	43880435	43880488	E070	-3116
chr13	43880565	43880781	E070	-2823
chr13	43881247	43881402	E070	-2202
chr13	43881457	43881727	E070	-1877
chr13	43881741	43882497	E070	-1107
chr13	43882527	43882593	E070	-1011
chr13	43882627	43882863	E070	-741
chr13	43889388	43890889	E070	5784
chr13	43890934	43891572	E070	7330
chr13	43893779	43894554	E070	10175
chr13	43902827	43902905	E070	19223
chr13	43903206	43903279	E070	19602
chr13	43903481	43903535	E070	19877
chr13	43903974	43904056	E070	20370
chr13	43904126	43904209	E070	20522
chr13	43904470	43904530	E070	20866
chr13	43905117	43905224	E070	21513
chr13	43905227	43905291	E070	21623
chr13	43905332	43905468	E070	21728
chr13	43905545	43905595	E070	21941
chr13	43905699	43905779	E070	22095
chr13	43905788	43906237	E070	22184
chr13	43906274	43906384	E070	22670
chr13	43906511	43906587	E070	22907
chr13	43907395	43907754	E070	23791
chr13	43908315	43908433	E070	24711
chr13	43913965	43914086	E070	30361
chr13	43914101	43914188	E070	30497
chr13	43914401	43914610	E070	30797
chr13	43914884	43914934	E070	31280
chr13	43915680	43915730	E070	32076
chr13	43916024	43916075	E070	32420
chr13	43916171	43916256	E070	32567
chr13	43916691	43916782	E070	33087
chr13	43918747	43918906	E070	35143
chr13	43918956	43919126	E070	35352
chr13	43919173	43919223	E070	35569
chr13	43920363	43920517	E070	36759
chr13	43920545	43920968	E070	36941
chr13	43921412	43921475	E070	37808
chr13	43921576	43921626	E070	37972
chr13	43921701	43921811	E070	38097
chr13	43922555	43923000	E070	38951
chr13	43923375	43923454	E070	39771
chr13	43923838	43924008	E070	40234
chr13	43927570	43929005	E070	43966
chr13	43929080	43929531	E070	45476
chr13	43929543	43929597	E070	45939
chr13	43929930	43929980	E070	46326
chr13	43930779	43931008	E070	47175
chr13	43931143	43931363	E070	47539
chr13	43931394	43932124	E070	47790
chr13	43932148	43932261	E070	48544
chr13	43932272	43932563	E070	48668
chr13	43845055	43845156	E071	-38448
chr13	43845169	43845360	E071	-38244
chr13	43845447	43845497	E071	-38107
chr13	43845507	43845561	E071	-38043
chr13	43859999	43860601	E071	-23003
chr13	43876650	43878025	E071	-5579
chr13	43879220	43879333	E071	-4271
chr13	43881247	43881402	E071	-2202
chr13	43881457	43881727	E071	-1877
chr13	43881741	43882497	E071	-1107
chr13	43882527	43882593	E071	-1011
chr13	43898078	43898128	E071	14474
chr13	43898194	43898403	E071	14590
chr13	43898883	43898933	E071	15279
chr13	43899961	43900073	E071	16357
chr13	43900100	43900181	E071	16496
chr13	43900326	43900433	E071	16722
chr13	43900604	43900716	E071	17000
chr13	43900982	43901032	E071	17378
chr13	43901087	43901137	E071	17483
chr13	43901335	43901479	E071	17731
chr13	43903206	43903279	E071	19602
chr13	43903481	43903535	E071	19877
chr13	43903974	43904056	E071	20370
chr13	43904126	43904209	E071	20522
chr13	43904470	43904530	E071	20866
chr13	43905117	43905224	E071	21513
chr13	43905227	43905291	E071	21623
chr13	43905332	43905468	E071	21728
chr13	43905545	43905595	E071	21941
chr13	43905699	43905779	E071	22095
chr13	43905788	43906237	E071	22184
chr13	43906274	43906384	E071	22670
chr13	43906511	43906587	E071	22907
chr13	43921955	43922104	E071	38351
chr13	43922143	43922265	E071	38539
chr13	43922281	43922384	E071	38677
chr13	43922555	43923000	E071	38951
chr13	43845055	43845156	E072	-38448
chr13	43845169	43845360	E072	-38244
chr13	43876650	43878025	E072	-5579
chr13	43879638	43879843	E072	-3761
chr13	43881457	43881727	E072	-1877
chr13	43881741	43882497	E072	-1107
chr13	43898078	43898128	E072	14474
chr13	43898194	43898403	E072	14590
chr13	43898883	43898933	E072	15279
chr13	43899961	43900073	E072	16357
chr13	43900100	43900181	E072	16496
chr13	43900326	43900433	E072	16722
chr13	43900604	43900716	E072	17000
chr13	43900982	43901032	E072	17378
chr13	43901087	43901137	E072	17483
chr13	43901335	43901479	E072	17731
chr13	43904126	43904209	E072	20522
chr13	43905117	43905224	E072	21513
chr13	43905227	43905291	E072	21623
chr13	43905332	43905468	E072	21728
chr13	43905545	43905595	E072	21941
chr13	43905699	43905779	E072	22095
chr13	43905788	43906237	E072	22184
chr13	43906274	43906384	E072	22670
chr13	43906511	43906587	E072	22907
chr13	43922143	43922265	E072	38539
chr13	43922281	43922384	E072	38677
chr13	43922555	43923000	E072	38951
chr13	43846459	43846513	E073	-37091
chr13	43876650	43878025	E073	-5579
chr13	43878032	43878133	E073	-5471
chr13	43881103	43881205	E073	-2399
chr13	43881247	43881402	E073	-2202
chr13	43881457	43881727	E073	-1877
chr13	43881741	43882497	E073	-1107
chr13	43882527	43882593	E073	-1011
chr13	43890934	43891572	E073	7330
chr13	43893779	43894554	E073	10175
chr13	43899961	43900073	E073	16357
chr13	43900100	43900181	E073	16496
chr13	43900326	43900433	E073	16722
chr13	43903206	43903279	E073	19602
chr13	43903481	43903535	E073	19877
chr13	43905332	43905468	E073	21728
chr13	43905545	43905595	E073	21941
chr13	43905699	43905779	E073	22095
chr13	43905788	43906237	E073	22184
chr13	43906274	43906384	E073	22670
chr13	43906511	43906587	E073	22907
chr13	43859999	43860601	E074	-23003
chr13	43876650	43878025	E074	-5579
chr13	43879220	43879333	E074	-4271
chr13	43879638	43879843	E074	-3761
chr13	43881457	43881727	E074	-1877
chr13	43881741	43882497	E074	-1107
chr13	43890934	43891572	E074	7330
chr13	43898883	43898933	E074	15279
chr13	43899961	43900073	E074	16357
chr13	43900100	43900181	E074	16496
chr13	43900326	43900433	E074	16722
chr13	43900604	43900716	E074	17000
chr13	43900982	43901032	E074	17378
chr13	43902827	43902905	E074	19223
chr13	43903206	43903279	E074	19602
chr13	43903481	43903535	E074	19877
chr13	43903974	43904056	E074	20370
chr13	43904126	43904209	E074	20522
chr13	43904470	43904530	E074	20866
chr13	43905117	43905224	E074	21513
chr13	43905227	43905291	E074	21623
chr13	43905332	43905468	E074	21728
chr13	43905545	43905595	E074	21941
chr13	43905699	43905779	E074	22095
chr13	43905788	43906237	E074	22184
chr13	43906274	43906384	E074	22670
chr13	43906511	43906587	E074	22907
chr13	43923375	43923454	E074	39771
chr13	43839087	43839293	E081	-44311
chr13	43839351	43839421	E081	-44183
chr13	43839446	43839562	E081	-44042
chr13	43839913	43839965	E081	-43639
chr13	43840215	43840458	E081	-43146
chr13	43840611	43840711	E081	-42893
chr13	43841095	43841503	E081	-42101
chr13	43841557	43841898	E081	-41706
chr13	43841972	43842093	E081	-41511
chr13	43842859	43844859	E081	-38745
chr13	43845055	43845156	E081	-38448
chr13	43845169	43845360	E081	-38244
chr13	43845447	43845497	E081	-38107
chr13	43845507	43845561	E081	-38043
chr13	43849142	43849645	E081	-33959
chr13	43850324	43850374	E081	-33230
chr13	43850624	43850751	E081	-32853
chr13	43851046	43851096	E081	-32508
chr13	43851117	43851167	E081	-32437
chr13	43851304	43851354	E081	-32250
chr13	43851502	43851555	E081	-32049
chr13	43851578	43851628	E081	-31976
chr13	43852281	43852578	E081	-31026
chr13	43859999	43860601	E081	-23003
chr13	43872171	43872272	E081	-11332
chr13	43872281	43872376	E081	-11228
chr13	43872504	43872834	E081	-10770
chr13	43872874	43873376	E081	-10228
chr13	43873506	43873629	E081	-9975
chr13	43873679	43873868	E081	-9736
chr13	43873919	43874093	E081	-9511
chr13	43874301	43874341	E081	-9263
chr13	43874601	43874771	E081	-8833
chr13	43874773	43876098	E081	-7506
chr13	43876219	43876483	E081	-7121
chr13	43876488	43876634	E081	-6970
chr13	43876650	43878025	E081	-5579
chr13	43878032	43878133	E081	-5471
chr13	43878587	43878654	E081	-4950
chr13	43879638	43879843	E081	-3761
chr13	43880015	43880083	E081	-3521
chr13	43880124	43880370	E081	-3234
chr13	43881741	43882497	E081	-1107
chr13	43882527	43882593	E081	-1011
chr13	43889025	43889075	E081	5421
chr13	43889235	43889285	E081	5631
chr13	43889388	43890889	E081	5784
chr13	43892748	43892803	E081	9144
chr13	43892975	43893144	E081	9371
chr13	43893779	43894554	E081	10175
chr13	43905117	43905224	E081	21513
chr13	43905227	43905291	E081	21623
chr13	43905332	43905468	E081	21728
chr13	43905545	43905595	E081	21941
chr13	43905699	43905779	E081	22095
chr13	43905788	43906237	E081	22184
chr13	43906274	43906384	E081	22670
chr13	43906511	43906587	E081	22907
chr13	43909937	43910864	E081	26333
chr13	43921955	43922104	E081	38351
chr13	43922143	43922265	E081	38539
chr13	43922281	43922384	E081	38677
chr13	43922555	43923000	E081	38951
chr13	43926616	43926666	E081	43012
chr13	43926683	43926753	E081	43079
chr13	43926773	43926837	E081	43169
chr13	43926909	43927028	E081	43305
chr13	43927069	43927118	E081	43465
chr13	43927168	43927277	E081	43564
chr13	43927570	43929005	E081	43966
chr13	43929080	43929531	E081	45476
chr13	43929543	43929597	E081	45939
chr13	43929930	43929980	E081	46326
chr13	43930339	43930389	E081	46735
chr13	43930454	43930504	E081	46850
chr13	43931143	43931363	E081	47539
chr13	43931394	43932124	E081	47790
chr13	43932148	43932261	E081	48544
chr13	43932272	43932563	E081	48668
chr13	43932578	43932656	E081	48974
chr13	43932660	43932700	E081	49056
chr13	43933078	43933333	E081	49474
chr13	43933485	43933547	E081	49881
chr13	43841095	43841503	E082	-42101
chr13	43841557	43841898	E082	-41706
chr13	43841972	43842093	E082	-41511
chr13	43842859	43844859	E082	-38745
chr13	43872504	43872834	E082	-10770
chr13	43872874	43873376	E082	-10228
chr13	43873506	43873629	E082	-9975
chr13	43873679	43873868	E082	-9736
chr13	43873919	43874093	E082	-9511
chr13	43876650	43878025	E082	-5579
chr13	43878032	43878133	E082	-5471
chr13	43889388	43890889	E082	5784
chr13	43890934	43891572	E082	7330
chr13	43893779	43894554	E082	10175
chr13	43898194	43898403	E082	14590
chr13	43898883	43898933	E082	15279
chr13	43905117	43905224	E082	21513
chr13	43905227	43905291	E082	21623
chr13	43905332	43905468	E082	21728
chr13	43905545	43905595	E082	21941
chr13	43905699	43905779	E082	22095
chr13	43905788	43906237	E082	22184
chr13	43906274	43906384	E082	22670
chr13	43906511	43906587	E082	22907
chr13	43907395	43907754	E082	23791
chr13	43913965	43914086	E082	30361
chr13	43914101	43914188	E082	30497
chr13	43917715	43918121	E082	34111
chr13	43923375	43923454	E082	39771
chr13	43927570	43929005	E082	43966
chr13	43929080	43929531	E082	45476
chr13	43929543	43929597	E082	45939