rs3891723

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

ST18 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0222 (6662/29950,GnomAD)
A=0266 (7750/29118,TOPMED)
A=0197 (987/5008,1000G)
A=0155 (599/3854,ALSPAC)
A=0160 (593/3708,TWINSUK)

Position: chr8:52146926 (GRCh38.p7) (8q11.23)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 167 Enhancers around

Promoter: 7 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 8	NC_000008.11:g.52146926G>A
GRCh37.p13 chr 8	NC_000008.10:g.53059486G>A

Gene: ST18, suppression of tumorigenicity 18, zinc finger(minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ST18 transcript variant 1	NM_014682.2:c.	N/A	Intron Variant
ST18 transcript variant X9	XM_006716487.1:c.	N/A	Intron Variant
ST18 transcript variant X2	XM_011517629.1:c.	N/A	Intron Variant
ST18 transcript variant X12	XM_011517631.1:c.	N/A	Intron Variant
ST18 transcript variant X3	XM_011517632.1:c.	N/A	Intron Variant
ST18 transcript variant X4	XM_011517633.1:c.	N/A	Intron Variant
ST18 transcript variant X11	XM_011517634.1:c.	N/A	Intron Variant
ST18 transcript variant X2	XM_011517635.1:c.	N/A	Intron Variant
ST18 transcript variant X7	XM_011517636.2:c.	N/A	Intron Variant
ST18 transcript variant X5	XM_011517637.1:c.	N/A	Intron Variant
ST18 transcript variant X33	XM_011517638.2:c.	N/A	Intron Variant
ST18 transcript variant X6	XM_011517641.1:c.	N/A	Intron Variant
ST18 transcript variant X7	XM_011517642.1:c.	N/A	Intron Variant
ST18 transcript variant X1	XM_017014047.1:c.	N/A	Intron Variant
ST18 transcript variant X5	XM_017014048.1:c.	N/A	Intron Variant
ST18 transcript variant X6	XM_017014049.1:c.	N/A	Intron Variant
ST18 transcript variant X8	XM_017014050.1:c.	N/A	Intron Variant
ST18 transcript variant X10	XM_017014051.1:c.	N/A	Intron Variant
ST18 transcript variant X13	XM_017014052.1:c.	N/A	Intron Variant
ST18 transcript variant X14	XM_017014053.1:c.	N/A	Intron Variant
ST18 transcript variant X15	XM_017014054.1:c.	N/A	Intron Variant
ST18 transcript variant X16	XM_017014055.1:c.	N/A	Intron Variant
ST18 transcript variant X17	XM_017014056.1:c.	N/A	Intron Variant
ST18 transcript variant X18	XM_017014057.1:c.	N/A	Intron Variant
ST18 transcript variant X1	XM_017014058.1:c.	N/A	Intron Variant
ST18 transcript variant X20	XM_017014059.1:c.	N/A	Intron Variant
ST18 transcript variant X21	XM_017014060.1:c.	N/A	Intron Variant
ST18 transcript variant X22	XM_017014061.1:c.	N/A	Intron Variant
ST18 transcript variant X23	XM_017014062.1:c.	N/A	Intron Variant
ST18 transcript variant X24	XM_017014063.1:c.	N/A	Intron Variant
ST18 transcript variant X25	XM_017014064.1:c.	N/A	Intron Variant
ST18 transcript variant X27	XM_017014065.1:c.	N/A	Intron Variant
ST18 transcript variant X28	XM_017014066.1:c.	N/A	Intron Variant
ST18 transcript variant X29	XM_017014067.1:c.	N/A	Intron Variant
ST18 transcript variant X30	XM_017014068.1:c.	N/A	Intron Variant
ST18 transcript variant X32	XM_017014069.1:c.	N/A	Intron Variant
ST18 transcript variant X34	XM_017014070.1:c.	N/A	Intron Variant
ST18 transcript variant X35	XM_017014071.1:c.	N/A	Intron Variant
ST18 transcript variant X36	XM_017014072.1:c.	N/A	Intron Variant
ST18 transcript variant X37	XM_017014073.1:c.	N/A	Intron Variant
ST18 transcript variant X38	XM_017014074.1:c.	N/A	Intron Variant
ST18 transcript variant X40	XM_017014075.1:c.	N/A	Intron Variant
ST18 transcript variant X41	XM_017014076.1:c.	N/A	Intron Variant
ST18 transcript variant X42	XM_017014077.1:c.	N/A	Intron Variant
ST18 transcript variant X43	XM_017014078.1:c.	N/A	Intron Variant
ST18 transcript variant X44	XM_017014079.1:c.	N/A	Intron Variant
ST18 transcript variant X45	XM_017014080.1:c.	N/A	Intron Variant
ST18 transcript variant X47	XM_017014081.1:c.	N/A	Intron Variant
ST18 transcript variant X48	XM_017014082.1:c.	N/A	Intron Variant
ST18 transcript variant X49	XM_017014083.1:c.	N/A	Intron Variant
ST18 transcript variant X50	XM_017014084.1:c.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.567	A=0.433
1000Genomes	American	Sub	694	G=0.880	A=0.120
1000Genomes	East Asian	Sub	1008	G=0.999	A=0.001
1000Genomes	Europe	Sub	1006	G=0.833	A=0.167
1000Genomes	Global	Study-wide	5008	G=0.803	A=0.197
1000Genomes	South Asian	Sub	978	G=0.840	A=0.160
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.845	A=0.155
The Genome Aggregation Database	African	Sub	8712	G=0.602	A=0.398
The Genome Aggregation Database	American	Sub	836	G=0.900	A=0.100
The Genome Aggregation Database	East Asian	Sub	1620	G=0.998	A=0.002
The Genome Aggregation Database	Europe	Sub	18480	G=0.836	A=0.164
The Genome Aggregation Database	Global	Study-wide	29950	G=0.777	A=0.222
The Genome Aggregation Database	Other	Sub	302	G=0.720	A=0.280
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.733	A=0.266
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.840	A=0.160

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
rs3891723	0.00016	alcohol dependence	20201924
rs3891723	0.00026	alcohol dependence(Early Onset)	20201924

eQTL of rs3891723 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 rs3891723 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 )
chr8	53059302	53059786	E067	0
chr8	53059920	53060030	E067	434
chr8	53063086	53063276	E067	3600
chr8	53063401	53063553	E067	3915
chr8	53063592	53063812	E067	4106
chr8	53063818	53064047	E067	4332
chr8	53064111	53064283	E067	4625
chr8	53064362	53064568	E067	4876
chr8	53064640	53064832	E067	5154
chr8	53064863	53064976	E067	5377
chr8	53085983	53086111	E067	26497
chr8	53087780	53087831	E067	28294
chr8	53087922	53088001	E067	28436
chr8	53088158	53088198	E067	28672
chr8	53106798	53106904	E067	47312
chr8	53107057	53107107	E067	47571
chr8	53085983	53086111	E068	26497
chr8	53086224	53086718	E068	26738
chr8	53086891	53086945	E068	27405
chr8	53087026	53087268	E068	27540
chr8	53087308	53087466	E068	27822
chr8	53087780	53087831	E068	28294
chr8	53087922	53088001	E068	28436
chr8	53088158	53088198	E068	28672
chr8	53037398	53037448	E069	-22038
chr8	53037518	53037679	E069	-21807
chr8	53085983	53086111	E069	26497
chr8	53086224	53086718	E069	26738
chr8	53086891	53086945	E069	27405
chr8	53087026	53087268	E069	27540
chr8	53087308	53087466	E069	27822
chr8	53087780	53087831	E069	28294
chr8	53087922	53088001	E069	28436
chr8	53088158	53088198	E069	28672
chr8	53019609	53019663	E070	-39823
chr8	53024773	53025358	E070	-34128
chr8	53058260	53058310	E070	-1176
chr8	53058643	53058693	E070	-793
chr8	53058723	53058792	E070	-694
chr8	53058867	53059256	E070	-230
chr8	53062899	53063077	E070	3413
chr8	53063086	53063276	E070	3600
chr8	53063401	53063553	E070	3915
chr8	53063592	53063812	E070	4106
chr8	53063818	53064047	E070	4332
chr8	53064111	53064283	E070	4625
chr8	53064362	53064568	E070	4876
chr8	53064640	53064832	E070	5154
chr8	53064863	53064976	E070	5377
chr8	53080605	53080655	E070	21119
chr8	53080923	53080984	E070	21437
chr8	53081096	53081179	E070	21610
chr8	53083190	53083240	E070	23704
chr8	53085666	53085727	E070	26180
chr8	53086224	53086718	E070	26738
chr8	53087922	53088001	E070	28436
chr8	53088158	53088198	E070	28672
chr8	53096656	53096753	E070	37170
chr8	53109067	53109117	E070	49581
chr8	53058643	53058693	E071	-793
chr8	53058723	53058792	E071	-694
chr8	53062198	53062279	E071	2712
chr8	53062357	53062423	E071	2871
chr8	53062523	53062633	E071	3037
chr8	53062899	53063077	E071	3413
chr8	53063086	53063276	E071	3600
chr8	53063401	53063553	E071	3915
chr8	53063592	53063812	E071	4106
chr8	53063818	53064047	E071	4332
chr8	53064111	53064283	E071	4625
chr8	53064362	53064568	E071	4876
chr8	53064640	53064832	E071	5154
chr8	53064863	53064976	E071	5377
chr8	53085983	53086111	E071	26497
chr8	53086224	53086718	E071	26738
chr8	53086891	53086945	E071	27405
chr8	53087026	53087268	E071	27540
chr8	53087308	53087466	E071	27822
chr8	53087780	53087831	E071	28294
chr8	53087922	53088001	E071	28436
chr8	53088158	53088198	E071	28672
chr8	53019609	53019663	E072	-39823
chr8	53062523	53062633	E072	3037
chr8	53062899	53063077	E072	3413
chr8	53063086	53063276	E072	3600
chr8	53063401	53063553	E072	3915
chr8	53063592	53063812	E072	4106
chr8	53063818	53064047	E072	4332
chr8	53064111	53064283	E072	4625
chr8	53064362	53064568	E072	4876
chr8	53064640	53064832	E072	5154
chr8	53064863	53064976	E072	5377
chr8	53065794	53065854	E072	6308
chr8	53065874	53065924	E072	6388
chr8	53085983	53086111	E072	26497
chr8	53086224	53086718	E072	26738
chr8	53086891	53086945	E072	27405
chr8	53087026	53087268	E072	27540
chr8	53087308	53087466	E072	27822
chr8	53087780	53087831	E072	28294
chr8	53087922	53088001	E072	28436
chr8	53088158	53088198	E072	28672
chr8	53089089	53089139	E072	29603
chr8	53096656	53096753	E072	37170
chr8	53106798	53106904	E072	47312
chr8	53107057	53107107	E072	47571
chr8	53107310	53107383	E072	47824
chr8	53085983	53086111	E073	26497
chr8	53086224	53086718	E073	26738
chr8	53087780	53087831	E073	28294
chr8	53087922	53088001	E073	28436
chr8	53088158	53088198	E073	28672
chr8	53019609	53019663	E074	-39823
chr8	53020298	53020380	E074	-39106
chr8	53020597	53020669	E074	-38817
chr8	53058643	53058693	E074	-793
chr8	53058723	53058792	E074	-694
chr8	53060255	53060430	E074	769
chr8	53060618	53060727	E074	1132
chr8	53060820	53060874	E074	1334
chr8	53060999	53061049	E074	1513
chr8	53061121	53061193	E074	1635
chr8	53061331	53061381	E074	1845
chr8	53061578	53062032	E074	2092
chr8	53062198	53062279	E074	2712
chr8	53062357	53062423	E074	2871
chr8	53063086	53063276	E074	3600
chr8	53063401	53063553	E074	3915
chr8	53063592	53063812	E074	4106
chr8	53063818	53064047	E074	4332
chr8	53064111	53064283	E074	4625
chr8	53064362	53064568	E074	4876
chr8	53064640	53064832	E074	5154
chr8	53064863	53064976	E074	5377
chr8	53085983	53086111	E074	26497
chr8	53086224	53086718	E074	26738
chr8	53086891	53086945	E074	27405
chr8	53087026	53087268	E074	27540
chr8	53087308	53087466	E074	27822
chr8	53087780	53087831	E074	28294
chr8	53087922	53088001	E074	28436
chr8	53088158	53088198	E074	28672
chr8	53062899	53063077	E081	3413
chr8	53063086	53063276	E081	3600
chr8	53063401	53063553	E081	3915
chr8	53063592	53063812	E081	4106
chr8	53063818	53064047	E081	4332
chr8	53064111	53064283	E081	4625
chr8	53064362	53064568	E081	4876
chr8	53064640	53064832	E081	5154
chr8	53064863	53064976	E081	5377
chr8	53066670	53066720	E081	7184
chr8	53066770	53067130	E081	7284
chr8	53069266	53069316	E081	9780
chr8	53087780	53087831	E081	28294
chr8	53087922	53088001	E081	28436
chr8	53088158	53088198	E081	28672
chr8	53062523	53062633	E082	3037
chr8	53063592	53063812	E082	4106
chr8	53063818	53064047	E082	4332
chr8	53064111	53064283	E082	4625
chr8	53064362	53064568	E082	4876
chr8	53064640	53064832	E082	5154
chr8	53085983	53086111	E082	26497
chr8	53086224	53086718	E082	26738
chr8	53086891	53086945	E082	27405
chr8	53087026	53087268	E082	27540

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr8	53013447	53013991	E068	-45495
chr8	53013447	53013991	E069	-45495
chr8	53013447	53013991	E070	-45495
chr8	53013447	53013991	E071	-45495
chr8	53013447	53013991	E072	-45495
chr8	53013447	53013991	E074	-45495
chr8	53013447	53013991	E082	-45495