SNP Detail Info-rs17172185

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 7	NC_000007.14:g.43247240T>C
GRCh37.p13 chr 7	NC_000007.13:g.43286839T>C

Gene: HECW1, HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
HECW1 transcript variant 2	NM_001287059.1:c.	N/A	Intron Variant
HECW1 transcript variant 1	NM_015052.4:c.	N/A	Intron Variant
HECW1 transcript variant X6	XM_005249665.3:c.	N/A	Intron Variant
HECW1 transcript variant X4	XM_006715670.3:c.	N/A	Intron Variant
HECW1 transcript variant X5	XM_006715671.3:c.	N/A	Intron Variant
HECW1 transcript variant X15	XM_006715673.3:c.	N/A	Intron Variant
HECW1 transcript variant X8	XM_011515220.2:c.	N/A	Intron Variant
HECW1 transcript variant X13	XM_011515223.2:c.	N/A	Intron Variant
HECW1 transcript variant X1	XM_017011882.1:c.	N/A	Intron Variant
HECW1 transcript variant X2	XM_017011883.1:c.	N/A	Intron Variant
HECW1 transcript variant X3	XM_017011884.1:c.	N/A	Intron Variant
HECW1 transcript variant X7	XM_017011885.1:c.	N/A	Intron Variant
HECW1 transcript variant X9	XM_017011886.1:c.	N/A	Intron Variant
HECW1 transcript variant X10	XM_017011887.1:c.	N/A	Intron Variant
HECW1 transcript variant X11	XM_017011888.1:c.	N/A	Intron Variant
HECW1 transcript variant X16	XM_017011889.1:c.	N/A	Intron Variant
HECW1 transcript variant X19	XM_017011890.1:c.	N/A	Intron Variant
HECW1 transcript variant X12	XM_011515222.2:c.	N/A	Genic Upstream Transcript Variant
HECW1 transcript variant X14	XM_011515224.2:c.	N/A	Genic Upstream Transcript Variant
HECW1 transcript variant X17	XM_011515225.2:c.	N/A	Genic Upstream Transcript Variant
HECW1 transcript variant X18	XM_011515226.2:c.	N/A	Genic Upstream Transcript Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	T=0.638	C=0.362
1000Genomes	American	Sub	694	T=0.940	C=0.060
1000Genomes	East Asian	Sub	1008	T=0.750	C=0.250
1000Genomes	Europe	Sub	1006	T=0.925	C=0.075
1000Genomes	Global	Study-wide	5008	T=0.820	C=0.180
1000Genomes	South Asian	Sub	978	T=0.950	C=0.050
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.945	C=0.055
The Genome Aggregation Database	African	Sub	8710	T=0.668	C=0.332
The Genome Aggregation Database	American	Sub	838	T=0.930	C=0.070
The Genome Aggregation Database	East Asian	Sub	1614	T=0.786	C=0.214
The Genome Aggregation Database	Europe	Sub	18504	T=0.963	C=0.036
The Genome Aggregation Database	Global	Study-wide	29968	T=0.866	C=0.134
The Genome Aggregation Database	Other	Sub	302	T=0.870	C=0.130
Trans-Omics for Precision Medicine	Global	Study-wide	29118	T=0.809	C=0.190
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.949	C=0.051

PMID	Title	Author	Journal
20018077	Incorporating biological knowledge in the search for gene x gene interaction in genome-wide association studies.	Manning AK	BMC Proc

SNP ID	p-value	Traits	Study
rs17172185	8.52E-05	alcoholism	pha002893

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
There is no eQTL annotation for this SNP

Probe ID	Position	Gene	beta	p-value
There is no meQTL annotation for this SNP

Enhancer Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr7	43283866	43284154	E067	-2685
chr7	43284475	43284587	E067	-2252
chr7	43286678	43286866	E067	0
chr7	43286919	43286983	E067	80
chr7	43287803	43287894	E067	964
chr7	43287927	43288031	E067	1088
chr7	43288062	43288214	E067	1223
chr7	43284475	43284587	E068	-2252
chr7	43333723	43334350	E068	46884
chr7	43250558	43250618	E069	-36221
chr7	43250708	43250777	E069	-36062
chr7	43246262	43246332	E070	-40507
chr7	43287927	43288031	E072	1088
chr7	43288062	43288214	E072	1223
chr7	43290158	43290355	E072	3319
chr7	43333553	43333634	E072	46714
chr7	43333653	43333703	E072	46814
chr7	43333723	43334350	E072	46884
chr7	43273747	43273827	E073	-13012
chr7	43273834	43273919	E073	-12920
chr7	43274429	43274511	E073	-12328
chr7	43274550	43274698	E073	-12141
chr7	43282487	43282726	E073	-4113
chr7	43282819	43282873	E073	-3966
chr7	43282960	43283010	E073	-3829
chr7	43284475	43284587	E073	-2252
chr7	43284745	43284810	E073	-2029
chr7	43284931	43285029	E073	-1810
chr7	43285051	43285175	E073	-1664
chr7	43286247	43286351	E073	-488
chr7	43287803	43287894	E073	964
chr7	43287927	43288031	E073	1088
chr7	43288062	43288214	E073	1223
chr7	43290158	43290355	E073	3319
chr7	43317985	43318035	E073	31146
chr7	43318190	43318240	E073	31351
chr7	43333553	43333634	E073	46714
chr7	43333653	43333703	E073	46814
chr7	43333723	43334350	E073	46884
chr7	43270817	43270867	E081	-15972
chr7	43270937	43270987	E081	-15852
chr7	43271090	43271140	E081	-15699
chr7	43271157	43271211	E081	-15628
chr7	43273409	43273573	E081	-13266
chr7	43273621	43273677	E081	-13162
chr7	43273747	43273827	E081	-13012
chr7	43287927	43288031	E081	1088
chr7	43288062	43288214	E081	1223
chr7	43290158	43290355	E081	3319
chr7	43280304	43280418	E082	-6421
chr7	43280531	43280598	E082	-6241
chr7	43280678	43280784	E082	-6055

rs17172185

Genomic Coordinates

Gene: HECW1, HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1(plus strand)

Population Frequency

P-Value

eQTL of rs17172185 in Brain tissues (GTEx Analysis Release V7)

meQTL of rs17172185 in Fetal Brain

Genomic View

Chromatin Interaction

Enhancer Annotation (GRCh37.p13)