rs3795443

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

ENAH : 3 Prime UTR Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0129 (3879/29970,GnomAD)
G=0111 (3248/29116,TOPMED)
G=0143 (717/5008,1000G)
G=0142 (547/3854,ALSPAC)
G=0138 (513/3708,TWINSUK)

Position: chr1:225487301 (GRCh38.p7) (1q42.12)

Phenotype: ND

Dataset:

GWASdb2

Publications: 2 publication(s)

Genomic View: See rs on genome

Enhancer: 216 Enhancers around

Promoter: 5 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.225487301A>G
GRCh37.p13 chr 1	NC_000001.10:g.225675003A>G

Gene: ENAH, enabled homolog (Drosophila)(minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ENAH transcript variant 2	NM_018212.4:c.	N/A	3 Prime UTR Variant
ENAH transcript variant 1	NM_001008493.1:c.	N/A	3 Prime UTR Variant
ENAH transcript variant X1	XM_017001746.1:c.	N/A	3 Prime UTR Variant
ENAH transcript variant X15	XM_017001751.1:c.	N/A	3 Prime UTR Variant
ENAH transcript variant X9	XM_017001753.1:c.	N/A	3 Prime UTR Variant
ENAH transcript variant X10	XM_017001754.1:c.	N/A	3 Prime UTR Variant
ENAH transcript variant X11	XM_005273187.2:c.	N/A	3 Prime UTR Variant
ENAH transcript variant X12	XM_017001755.1:c.	N/A	3 Prime UTR Variant
ENAH transcript variant X13	XM_017001756.1:c.	N/A	3 Prime UTR Variant
ENAH transcript variant X14	XM_017001757.1:c.	N/A	3 Prime UTR Variant
ENAH transcript variant X6	XM_011544229.2:c.	N/A	Genic Downstream Transcript Variant
ENAH transcript variant X9	XM_017001747.1:c.	N/A	Genic Downstream Transcript Variant
ENAH transcript variant X10	XM_017001748.1:c.	N/A	Genic Downstream Transcript Variant
ENAH transcript variant X11	XM_017001749.1:c.	N/A	Genic Downstream Transcript Variant
ENAH transcript variant X13	XM_017001750.1:c.	N/A	Genic Downstream Transcript Variant
ENAH transcript variant X20	XM_017001752.1:c.	N/A	Genic Downstream Transcript Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.923	G=0.077
1000Genomes	American	Sub	694	A=0.810	G=0.190
1000Genomes	East Asian	Sub	1008	A=0.877	G=0.123
1000Genomes	Europe	Sub	1006	A=0.845	G=0.155
1000Genomes	Global	Study-wide	5008	A=0.857	G=0.143
1000Genomes	South Asian	Sub	978	A=0.790	G=0.210
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.858	G=0.142
The Genome Aggregation Database	African	Sub	8728	A=0.913	G=0.087
The Genome Aggregation Database	American	Sub	838	A=0.840	G=0.160
The Genome Aggregation Database	East Asian	Sub	1616	A=0.879	G=0.121
The Genome Aggregation Database	Europe	Sub	18486	A=0.851	G=0.148
The Genome Aggregation Database	Global	Study-wide	29970	A=0.870	G=0.129
The Genome Aggregation Database	Other	Sub	302	A=0.860	G=0.140
Trans-Omics for Precision Medicine	Global	Study-wide	29116	A=0.888	G=0.111
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.862	G=0.138

PMID	Title	Author	Journal
19641378	The enabled homolog gene polymorphisms are associated with susceptibility and progression of childhood IgA nephropathy.	Hahn WH	Exp Mol Med
20158304	A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.	Lind PA	Twin Res Hum Genet

P-Value

SNP ID	p-value	Traits	Study
rs3795443	4.56E-05	alcohol and nictotine co-dependence	20158304

eQTL of rs3795443 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 rs3795443 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 )
chr1	225633385	225634322	E067	-40681
chr1	225634384	225634575	E067	-40428
chr1	225634626	225634944	E067	-40059
chr1	225636030	225636119	E067	-38884
chr1	225636293	225636380	E067	-38623
chr1	225661455	225661559	E067	-13444
chr1	225662247	225662311	E067	-12692
chr1	225670405	225670603	E067	-4400
chr1	225671824	225672190	E067	-2813
chr1	225672262	225672351	E067	-2652
chr1	225676479	225676652	E067	1476
chr1	225677017	225677092	E067	2014
chr1	225696178	225696707	E067	21175
chr1	225696714	225697318	E067	21711
chr1	225697357	225697411	E067	22354
chr1	225703831	225703910	E067	28828
chr1	225633385	225634322	E068	-40681
chr1	225634384	225634575	E068	-40428
chr1	225634626	225634944	E068	-40059
chr1	225634949	225635345	E068	-39658
chr1	225636293	225636380	E068	-38623
chr1	225669937	225670305	E068	-4698
chr1	225676479	225676652	E068	1476
chr1	225677017	225677092	E068	2014
chr1	225688301	225688625	E068	13298
chr1	225688657	225688755	E068	13654
chr1	225694779	225694860	E068	19776
chr1	225696178	225696707	E068	21175
chr1	225696714	225697318	E068	21711
chr1	225697357	225697411	E068	22354
chr1	225697578	225697783	E068	22575
chr1	225703831	225703910	E068	28828
chr1	225633385	225634322	E069	-40681
chr1	225634384	225634575	E069	-40428
chr1	225634626	225634944	E069	-40059
chr1	225634949	225635345	E069	-39658
chr1	225636496	225636589	E069	-38414
chr1	225642200	225642438	E069	-32565
chr1	225661077	225661214	E069	-13789
chr1	225661455	225661559	E069	-13444
chr1	225661693	225661778	E069	-13225
chr1	225661823	225661877	E069	-13126
chr1	225661987	225662037	E069	-12966
chr1	225662247	225662311	E069	-12692
chr1	225662370	225663504	E069	-11499
chr1	225669699	225669749	E069	-5254
chr1	225669937	225670305	E069	-4698
chr1	225671824	225672190	E069	-2813
chr1	225676034	225676155	E069	1031
chr1	225676479	225676652	E069	1476
chr1	225677017	225677092	E069	2014
chr1	225686338	225686703	E069	11335
chr1	225696714	225697318	E069	21711
chr1	225697357	225697411	E069	22354
chr1	225697578	225697783	E069	22575
chr1	225703831	225703910	E069	28828
chr1	225634626	225634944	E070	-40059
chr1	225634949	225635345	E070	-39658
chr1	225635351	225635937	E070	-39066
chr1	225641779	225641950	E070	-33053
chr1	225641969	225642159	E070	-32844
chr1	225647959	225649088	E070	-25915
chr1	225649170	225649214	E070	-25789
chr1	225649283	225649412	E070	-25591
chr1	225653024	225653506	E070	-21497
chr1	225653626	225653676	E070	-21327
chr1	225662370	225663504	E070	-11499
chr1	225668547	225669087	E070	-5916
chr1	225669183	225669251	E070	-5752
chr1	225669333	225669566	E070	-5437
chr1	225669699	225669749	E070	-5254
chr1	225669937	225670305	E070	-4698
chr1	225671429	225671483	E070	-3520
chr1	225671824	225672190	E070	-2813
chr1	225696714	225697318	E070	21711
chr1	225697357	225697411	E070	22354
chr1	225710785	225711230	E070	35782
chr1	225714608	225714875	E070	39605
chr1	225714910	225715027	E070	39907
chr1	225715091	225715208	E070	40088
chr1	225715255	225715305	E070	40252
chr1	225721470	225721532	E070	46467
chr1	225633385	225634322	E071	-40681
chr1	225634384	225634575	E071	-40428
chr1	225634626	225634944	E071	-40059
chr1	225636496	225636589	E071	-38414
chr1	225641969	225642159	E071	-32844
chr1	225642200	225642438	E071	-32565
chr1	225662370	225663504	E071	-11499
chr1	225669699	225669749	E071	-5254
chr1	225669937	225670305	E071	-4698
chr1	225670405	225670603	E071	-4400
chr1	225671429	225671483	E071	-3520
chr1	225671824	225672190	E071	-2813
chr1	225676034	225676155	E071	1031
chr1	225676479	225676652	E071	1476
chr1	225677017	225677092	E071	2014
chr1	225688301	225688625	E071	13298
chr1	225688657	225688755	E071	13654
chr1	225696178	225696707	E071	21175
chr1	225696714	225697318	E071	21711
chr1	225697357	225697411	E071	22354
chr1	225697578	225697783	E071	22575
chr1	225703831	225703910	E071	28828
chr1	225711476	225711569	E071	36473
chr1	225721375	225721454	E071	46372
chr1	225633385	225634322	E072	-40681
chr1	225634384	225634575	E072	-40428
chr1	225634626	225634944	E072	-40059
chr1	225634949	225635345	E072	-39658
chr1	225636030	225636119	E072	-38884
chr1	225661987	225662037	E072	-12966
chr1	225662247	225662311	E072	-12692
chr1	225668547	225669087	E072	-5916
chr1	225669183	225669251	E072	-5752
chr1	225669333	225669566	E072	-5437
chr1	225669699	225669749	E072	-5254
chr1	225669937	225670305	E072	-4698
chr1	225670405	225670603	E072	-4400
chr1	225671429	225671483	E072	-3520
chr1	225671824	225672190	E072	-2813
chr1	225676034	225676155	E072	1031
chr1	225676479	225676652	E072	1476
chr1	225677017	225677092	E072	2014
chr1	225696178	225696707	E072	21175
chr1	225696714	225697318	E072	21711
chr1	225697357	225697411	E072	22354
chr1	225697578	225697783	E072	22575
chr1	225703831	225703910	E072	28828
chr1	225714608	225714875	E072	39605
chr1	225714910	225715027	E072	39907
chr1	225715091	225715208	E072	40088
chr1	225715255	225715305	E072	40252
chr1	225720930	225721335	E072	45927
chr1	225721375	225721454	E072	46372
chr1	225634626	225634944	E073	-40059
chr1	225634949	225635345	E073	-39658
chr1	225636293	225636380	E073	-38623
chr1	225636496	225636589	E073	-38414
chr1	225662370	225663504	E073	-11499
chr1	225669937	225670305	E073	-4698
chr1	225670405	225670603	E073	-4400
chr1	225676479	225676652	E073	1476
chr1	225677017	225677092	E073	2014
chr1	225696714	225697318	E073	21711
chr1	225697357	225697411	E073	22354
chr1	225697578	225697783	E073	22575
chr1	225705620	225705710	E073	30617
chr1	225633287	225633358	E074	-41645
chr1	225633385	225634322	E074	-40681
chr1	225634384	225634575	E074	-40428
chr1	225634626	225634944	E074	-40059
chr1	225634949	225635345	E074	-39658
chr1	225635351	225635937	E074	-39066
chr1	225641969	225642159	E074	-32844
chr1	225642200	225642438	E074	-32565
chr1	225642460	225642872	E074	-32131
chr1	225661455	225661559	E074	-13444
chr1	225661693	225661778	E074	-13225
chr1	225661823	225661877	E074	-13126
chr1	225661987	225662037	E074	-12966
chr1	225662247	225662311	E074	-12692
chr1	225662370	225663504	E074	-11499
chr1	225671824	225672190	E074	-2813
chr1	225672262	225672351	E074	-2652
chr1	225676479	225676652	E074	1476
chr1	225677017	225677092	E074	2014
chr1	225696178	225696707	E074	21175
chr1	225696714	225697318	E074	21711
chr1	225697357	225697411	E074	22354
chr1	225697578	225697783	E074	22575
chr1	225702541	225702777	E074	27538
chr1	225703831	225703910	E074	28828
chr1	225647959	225649088	E081	-25915
chr1	225649170	225649214	E081	-25789
chr1	225649283	225649412	E081	-25591
chr1	225650377	225650442	E081	-24561
chr1	225650536	225650586	E081	-24417
chr1	225650638	225650704	E081	-24299
chr1	225650767	225650878	E081	-24125
chr1	225650993	225651249	E081	-23754
chr1	225662370	225663504	E081	-11499
chr1	225668345	225668457	E081	-6546
chr1	225668547	225669087	E081	-5916
chr1	225669333	225669566	E081	-5437
chr1	225669937	225670305	E081	-4698
chr1	225670405	225670603	E081	-4400
chr1	225671429	225671483	E081	-3520
chr1	225671824	225672190	E081	-2813
chr1	225672262	225672351	E081	-2652
chr1	225672686	225672835	E081	-2168
chr1	225672937	225673179	E081	-1824
chr1	225675765	225675815	E081	762
chr1	225676034	225676155	E081	1031
chr1	225676479	225676652	E081	1476
chr1	225677017	225677092	E081	2014
chr1	225710785	225711230	E081	35782
chr1	225711476	225711569	E081	36473
chr1	225711735	225711779	E081	36732
chr1	225634949	225635345	E082	-39658
chr1	225635351	225635937	E082	-39066
chr1	225647959	225649088	E082	-25915
chr1	225649170	225649214	E082	-25789
chr1	225649283	225649412	E082	-25591
chr1	225650377	225650442	E082	-24561
chr1	225650536	225650586	E082	-24417
chr1	225650638	225650704	E082	-24299
chr1	225650767	225650878	E082	-24125
chr1	225650993	225651249	E082	-23754
chr1	225668547	225669087	E082	-5916
chr1	225669183	225669251	E082	-5752
chr1	225669333	225669566	E082	-5437
chr1	225671824	225672190	E082	-2813
chr1	225672262	225672351	E082	-2652
chr1	225677017	225677092	E082	2014
chr1	225710785	225711230	E082	35782

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr1	225706917	225707499	E067	31914
chr1	225706917	225707499	E069	31914
chr1	225706917	225707499	E071	31914
chr1	225706917	225707499	E072	31914
chr1	225706917	225707499	E074	31914