rs2114226

Organism: Homo sapiens

Alleles: T>C

Gene : Feature

ST18 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C=0300 (8999/29922,GnomAD)
C=0391 (11399/29118,TOPMED)
C=0295 (1476/5008,1000G)
C=0170 (656/3854,ALSPAC)
C=0171 (633/3708,TWINSUK)

Position: chr8:52124789 (GRCh38.p7) (8q11.23)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 129 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.52124789T>C
GRCh37.p13 chr 8	NC_000008.10:g.53037349T>C

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	T=0.323	C=0.677
1000Genomes	American	Sub	694	T=0.840	C=0.160
1000Genomes	East Asian	Sub	1008	T=0.927	C=0.073
1000Genomes	Europe	Sub	1006	T=0.815	C=0.185
1000Genomes	Global	Study-wide	5008	T=0.705	C=0.295
1000Genomes	South Asian	Sub	978	T=0.790	C=0.210
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.830	C=0.170
The Genome Aggregation Database	African	Sub	8692	T=0.371	C=0.629
The Genome Aggregation Database	American	Sub	838	T=0.860	C=0.140
The Genome Aggregation Database	East Asian	Sub	1616	T=0.934	C=0.066
The Genome Aggregation Database	Europe	Sub	18474	T=0.825	C=0.174
The Genome Aggregation Database	Global	Study-wide	29922	T=0.699	C=0.300
The Genome Aggregation Database	Other	Sub	302	T=0.700	C=0.300
Trans-Omics for Precision Medicine	Global	Study-wide	29118	T=0.608	C=0.391
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.829	C=0.171

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
rs2114226	0.00021	alcohol dependence	20201924

eQTL of rs2114226 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 rs2114226 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	21953
chr8	53059920	53060030	E067	22571
chr8	53063086	53063276	E067	25737
chr8	53063401	53063553	E067	26052
chr8	53063592	53063812	E067	26243
chr8	53063818	53064047	E067	26469
chr8	53064111	53064283	E067	26762
chr8	53064362	53064568	E067	27013
chr8	53064640	53064832	E067	27291
chr8	53064863	53064976	E067	27514
chr8	53085983	53086111	E067	48634
chr8	53085983	53086111	E068	48634
chr8	53086224	53086718	E068	48875
chr8	53086891	53086945	E068	49542
chr8	53087026	53087268	E068	49677
chr8	53037398	53037448	E069	49
chr8	53037518	53037679	E069	169
chr8	53085983	53086111	E069	48634
chr8	53086224	53086718	E069	48875
chr8	53086891	53086945	E069	49542
chr8	53087026	53087268	E069	49677
chr8	52987398	52987452	E070	-49897
chr8	53019609	53019663	E070	-17686
chr8	53024773	53025358	E070	-11991
chr8	53058260	53058310	E070	20911
chr8	53058643	53058693	E070	21294
chr8	53058723	53058792	E070	21374
chr8	53058867	53059256	E070	21518
chr8	53062899	53063077	E070	25550
chr8	53063086	53063276	E070	25737
chr8	53063401	53063553	E070	26052
chr8	53063592	53063812	E070	26243
chr8	53063818	53064047	E070	26469
chr8	53064111	53064283	E070	26762
chr8	53064362	53064568	E070	27013
chr8	53064640	53064832	E070	27291
chr8	53064863	53064976	E070	27514
chr8	53080605	53080655	E070	43256
chr8	53080923	53080984	E070	43574
chr8	53081096	53081179	E070	43747
chr8	53083190	53083240	E070	45841
chr8	53085666	53085727	E070	48317
chr8	53086224	53086718	E070	48875
chr8	53058643	53058693	E071	21294
chr8	53058723	53058792	E071	21374
chr8	53062198	53062279	E071	24849
chr8	53062357	53062423	E071	25008
chr8	53062523	53062633	E071	25174
chr8	53062899	53063077	E071	25550
chr8	53063086	53063276	E071	25737
chr8	53063401	53063553	E071	26052
chr8	53063592	53063812	E071	26243
chr8	53063818	53064047	E071	26469
chr8	53064111	53064283	E071	26762
chr8	53064362	53064568	E071	27013
chr8	53064640	53064832	E071	27291
chr8	53064863	53064976	E071	27514
chr8	53085983	53086111	E071	48634
chr8	53086224	53086718	E071	48875
chr8	53086891	53086945	E071	49542
chr8	53087026	53087268	E071	49677
chr8	53019609	53019663	E072	-17686
chr8	53062523	53062633	E072	25174
chr8	53062899	53063077	E072	25550
chr8	53063086	53063276	E072	25737
chr8	53063401	53063553	E072	26052
chr8	53063592	53063812	E072	26243
chr8	53063818	53064047	E072	26469
chr8	53064111	53064283	E072	26762
chr8	53064362	53064568	E072	27013
chr8	53064640	53064832	E072	27291
chr8	53064863	53064976	E072	27514
chr8	53065794	53065854	E072	28445
chr8	53065874	53065924	E072	28525
chr8	53085983	53086111	E072	48634
chr8	53086224	53086718	E072	48875
chr8	53086891	53086945	E072	49542
chr8	53087026	53087268	E072	49677
chr8	53085983	53086111	E073	48634
chr8	53086224	53086718	E073	48875
chr8	53019609	53019663	E074	-17686
chr8	53020298	53020380	E074	-16969
chr8	53020597	53020669	E074	-16680
chr8	53058643	53058693	E074	21294
chr8	53058723	53058792	E074	21374
chr8	53060255	53060430	E074	22906
chr8	53060618	53060727	E074	23269
chr8	53060820	53060874	E074	23471
chr8	53060999	53061049	E074	23650
chr8	53061121	53061193	E074	23772
chr8	53061331	53061381	E074	23982
chr8	53061578	53062032	E074	24229
chr8	53062198	53062279	E074	24849
chr8	53062357	53062423	E074	25008
chr8	53063086	53063276	E074	25737
chr8	53063401	53063553	E074	26052
chr8	53063592	53063812	E074	26243
chr8	53063818	53064047	E074	26469
chr8	53064111	53064283	E074	26762
chr8	53064362	53064568	E074	27013
chr8	53064640	53064832	E074	27291
chr8	53064863	53064976	E074	27514
chr8	53085983	53086111	E074	48634
chr8	53086224	53086718	E074	48875
chr8	53086891	53086945	E074	49542
chr8	53087026	53087268	E074	49677
chr8	52987398	52987452	E081	-49897
chr8	53062899	53063077	E081	25550
chr8	53063086	53063276	E081	25737
chr8	53063401	53063553	E081	26052
chr8	53063592	53063812	E081	26243
chr8	53063818	53064047	E081	26469
chr8	53064111	53064283	E081	26762
chr8	53064362	53064568	E081	27013
chr8	53064640	53064832	E081	27291
chr8	53064863	53064976	E081	27514
chr8	53066670	53066720	E081	29321
chr8	53066770	53067130	E081	29421
chr8	53069266	53069316	E081	31917
chr8	53062523	53062633	E082	25174
chr8	53063592	53063812	E082	26243
chr8	53063818	53064047	E082	26469
chr8	53064111	53064283	E082	26762
chr8	53064362	53064568	E082	27013
chr8	53064640	53064832	E082	27291
chr8	53085983	53086111	E082	48634
chr8	53086224	53086718	E082	48875
chr8	53086891	53086945	E082	49542
chr8	53087026	53087268	E082	49677

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr8	53013447	53013991	E068	-23358
chr8	53013447	53013991	E069	-23358
chr8	53013447	53013991	E070	-23358
chr8	53013447	53013991	E071	-23358
chr8	53013447	53013991	E072	-23358
chr8	53013447	53013991	E074	-23358
chr8	53013447	53013991	E082	-23358