rs8102949

Organism: Homo sapiens

Alleles: T>C

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C=0223 (6683/29924,GnomAD)
C=0290 (8445/29118,TOPMED)
C=0245 (1227/5008,1000G)
C=0073 (280/3854,ALSPAC)
C=0062 (231/3708,TWINSUK)

Position: chr19:29681434 (GRCh38.p7) (19q12)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 289 Enhancers around

Promoter: 24 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 19	NC_000019.10:g.29681434T>C
GRCh37.p13 chr 19	NC_000019.9:g.30172341T>C

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	T=0.362	C=0.638
1000Genomes	American	Sub	694	T=0.900	C=0.100
1000Genomes	East Asian	Sub	1008	T=0.839	C=0.161
1000Genomes	Europe	Sub	1006	T=0.929	C=0.071
1000Genomes	Global	Study-wide	5008	T=0.755	C=0.245
1000Genomes	South Asian	Sub	978	T=0.920	C=0.080
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.927	C=0.073
The Genome Aggregation Database	African	Sub	8704	T=0.446	C=0.554
The Genome Aggregation Database	American	Sub	838	T=0.930	C=0.070
The Genome Aggregation Database	East Asian	Sub	1620	T=0.830	C=0.170
The Genome Aggregation Database	Europe	Sub	18460	T=0.919	C=0.080
The Genome Aggregation Database	Global	Study-wide	29924	T=0.776	C=0.223
The Genome Aggregation Database	Other	Sub	302	T=0.880	C=0.120
Trans-Omics for Precision Medicine	Global	Study-wide	29118	T=0.710	C=0.290
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.938	C=0.062

PMID	Title	Author	Journal
21314694	Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.	Kendler KS	Alcohol Clin Exp Res

P-Value

SNP ID	p-value	Traits	Study
rs8102949	0.000563	alcohol dependence	21314694

eQTL of rs8102949 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 rs8102949 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 )
chr19	30136313	30136732	E067	-35609
chr19	30136750	30137438	E067	-34903
chr19	30153084	30154483	E067	-17858
chr19	30159555	30160313	E067	-12028
chr19	30162141	30164772	E067	-7569
chr19	30165726	30165839	E067	-6502
chr19	30165895	30165947	E067	-6394
chr19	30165955	30166048	E067	-6293
chr19	30166057	30166107	E067	-6234
chr19	30166200	30166254	E067	-6087
chr19	30166268	30166318	E067	-6023
chr19	30166363	30166442	E067	-5899
chr19	30166462	30166640	E067	-5701
chr19	30166650	30166878	E067	-5463
chr19	30166946	30167215	E067	-5126
chr19	30167310	30167360	E067	-4981
chr19	30167499	30168779	E067	-3562
chr19	30169149	30169304	E067	-3037
chr19	30169337	30169430	E067	-2911
chr19	30169431	30170146	E067	-2195
chr19	30170264	30170314	E067	-2027
chr19	30170469	30170550	E067	-1791
chr19	30170610	30170954	E067	-1387
chr19	30170989	30171109	E067	-1232
chr19	30171126	30172250	E067	-91
chr19	30172378	30173225	E067	37
chr19	30173580	30173631	E067	1239
chr19	30173649	30174353	E067	1308
chr19	30174620	30174660	E067	2279
chr19	30174737	30174851	E067	2396
chr19	30185137	30185282	E067	12796
chr19	30185354	30185935	E067	13013
chr19	30185993	30186228	E067	13652
chr19	30136313	30136732	E068	-35609
chr19	30153084	30154483	E068	-17858
chr19	30162141	30164772	E068	-7569
chr19	30165589	30165643	E068	-6698
chr19	30165726	30165839	E068	-6502
chr19	30165895	30165947	E068	-6394
chr19	30165955	30166048	E068	-6293
chr19	30166057	30166107	E068	-6234
chr19	30166200	30166254	E068	-6087
chr19	30166268	30166318	E068	-6023
chr19	30166363	30166442	E068	-5899
chr19	30166462	30166640	E068	-5701
chr19	30166650	30166878	E068	-5463
chr19	30166946	30167215	E068	-5126
chr19	30167310	30167360	E068	-4981
chr19	30167499	30168779	E068	-3562
chr19	30169149	30169304	E068	-3037
chr19	30169337	30169430	E068	-2911
chr19	30169431	30170146	E068	-2195
chr19	30170264	30170314	E068	-2027
chr19	30170469	30170550	E068	-1791
chr19	30170610	30170954	E068	-1387
chr19	30170989	30171109	E068	-1232
chr19	30171126	30172250	E068	-91
chr19	30172378	30173225	E068	37
chr19	30173580	30173631	E068	1239
chr19	30173649	30174353	E068	1308
chr19	30174620	30174660	E068	2279
chr19	30174737	30174851	E068	2396
chr19	30184910	30185016	E068	12569
chr19	30185137	30185282	E068	12796
chr19	30185354	30185935	E068	13013
chr19	30185993	30186228	E068	13652
chr19	30204488	30204565	E068	32147
chr19	30207975	30208090	E068	35634
chr19	30208096	30208211	E068	35755
chr19	30136750	30137438	E069	-34903
chr19	30153084	30154483	E069	-17858
chr19	30159555	30160313	E069	-12028
chr19	30160342	30160522	E069	-11819
chr19	30162141	30164772	E069	-7569
chr19	30164920	30165130	E069	-7211
chr19	30165243	30165405	E069	-6936
chr19	30165589	30165643	E069	-6698
chr19	30165726	30165839	E069	-6502
chr19	30165895	30165947	E069	-6394
chr19	30165955	30166048	E069	-6293
chr19	30166057	30166107	E069	-6234
chr19	30166200	30166254	E069	-6087
chr19	30166268	30166318	E069	-6023
chr19	30166363	30166442	E069	-5899
chr19	30166462	30166640	E069	-5701
chr19	30166650	30166878	E069	-5463
chr19	30166946	30167215	E069	-5126
chr19	30167310	30167360	E069	-4981
chr19	30167499	30168779	E069	-3562
chr19	30169149	30169304	E069	-3037
chr19	30169337	30169430	E069	-2911
chr19	30169431	30170146	E069	-2195
chr19	30170264	30170314	E069	-2027
chr19	30170469	30170550	E069	-1791
chr19	30170610	30170954	E069	-1387
chr19	30170989	30171109	E069	-1232
chr19	30171126	30172250	E069	-91
chr19	30172378	30173225	E069	37
chr19	30174737	30174851	E069	2396
chr19	30184910	30185016	E069	12569
chr19	30185137	30185282	E069	12796
chr19	30185354	30185935	E069	13013
chr19	30185993	30186228	E069	13652
chr19	30203634	30203729	E069	31293
chr19	30203730	30203936	E069	31389
chr19	30203999	30204391	E069	31658
chr19	30204488	30204565	E069	32147
chr19	30207975	30208090	E069	35634
chr19	30203378	30203454	E070	31037
chr19	30203634	30203729	E070	31293
chr19	30203730	30203936	E070	31389
chr19	30203999	30204391	E070	31658
chr19	30204488	30204565	E070	32147
chr19	30216450	30216543	E070	44109
chr19	30216707	30216844	E070	44366
chr19	30136313	30136732	E071	-35609
chr19	30136750	30137438	E071	-34903
chr19	30153084	30154483	E071	-17858
chr19	30154593	30154709	E071	-17632
chr19	30159555	30160313	E071	-12028
chr19	30160342	30160522	E071	-11819
chr19	30160551	30160669	E071	-11672
chr19	30162141	30164772	E071	-7569
chr19	30164920	30165130	E071	-7211
chr19	30165243	30165405	E071	-6936
chr19	30165589	30165643	E071	-6698
chr19	30165726	30165839	E071	-6502
chr19	30165895	30165947	E071	-6394
chr19	30165955	30166048	E071	-6293
chr19	30166057	30166107	E071	-6234
chr19	30166200	30166254	E071	-6087
chr19	30166268	30166318	E071	-6023
chr19	30166363	30166442	E071	-5899
chr19	30166462	30166640	E071	-5701
chr19	30166650	30166878	E071	-5463
chr19	30166946	30167215	E071	-5126
chr19	30167310	30167360	E071	-4981
chr19	30167499	30168779	E071	-3562
chr19	30169149	30169304	E071	-3037
chr19	30169337	30169430	E071	-2911
chr19	30169431	30170146	E071	-2195
chr19	30170264	30170314	E071	-2027
chr19	30170469	30170550	E071	-1791
chr19	30170610	30170954	E071	-1387
chr19	30170989	30171109	E071	-1232
chr19	30171126	30172250	E071	-91
chr19	30172378	30173225	E071	37
chr19	30174620	30174660	E071	2279
chr19	30174737	30174851	E071	2396
chr19	30183564	30183618	E071	11223
chr19	30183702	30183816	E071	11361
chr19	30184503	30184783	E071	12162
chr19	30184910	30185016	E071	12569
chr19	30185137	30185282	E071	12796
chr19	30185354	30185935	E071	13013
chr19	30185993	30186228	E071	13652
chr19	30186277	30186468	E071	13936
chr19	30199447	30200304	E071	27106
chr19	30203999	30204391	E071	31658
chr19	30204488	30204565	E071	32147
chr19	30207975	30208090	E071	35634
chr19	30136313	30136732	E072	-35609
chr19	30153084	30154483	E072	-17858
chr19	30159555	30160313	E072	-12028
chr19	30160342	30160522	E072	-11819
chr19	30162141	30164772	E072	-7569
chr19	30164920	30165130	E072	-7211
chr19	30165243	30165405	E072	-6936
chr19	30165589	30165643	E072	-6698
chr19	30165726	30165839	E072	-6502
chr19	30165895	30165947	E072	-6394
chr19	30165955	30166048	E072	-6293
chr19	30166057	30166107	E072	-6234
chr19	30166200	30166254	E072	-6087
chr19	30166268	30166318	E072	-6023
chr19	30166363	30166442	E072	-5899
chr19	30166462	30166640	E072	-5701
chr19	30166650	30166878	E072	-5463
chr19	30166946	30167215	E072	-5126
chr19	30167310	30167360	E072	-4981
chr19	30167499	30168779	E072	-3562
chr19	30169149	30169304	E072	-3037
chr19	30169337	30169430	E072	-2911
chr19	30169431	30170146	E072	-2195
chr19	30170264	30170314	E072	-2027
chr19	30170469	30170550	E072	-1791
chr19	30170610	30170954	E072	-1387
chr19	30170989	30171109	E072	-1232
chr19	30171126	30172250	E072	-91
chr19	30172378	30173225	E072	37
chr19	30174620	30174660	E072	2279
chr19	30174737	30174851	E072	2396
chr19	30184910	30185016	E072	12569
chr19	30185137	30185282	E072	12796
chr19	30185354	30185935	E072	13013
chr19	30185993	30186228	E072	13652
chr19	30199447	30200304	E072	27106
chr19	30203634	30203729	E072	31293
chr19	30203730	30203936	E072	31389
chr19	30203999	30204391	E072	31658
chr19	30207975	30208090	E072	35634
chr19	30136313	30136732	E073	-35609
chr19	30136750	30137438	E073	-34903
chr19	30162141	30164772	E073	-7569
chr19	30165589	30165643	E073	-6698
chr19	30165726	30165839	E073	-6502
chr19	30165895	30165947	E073	-6394
chr19	30165955	30166048	E073	-6293
chr19	30166057	30166107	E073	-6234
chr19	30166200	30166254	E073	-6087
chr19	30166268	30166318	E073	-6023
chr19	30166363	30166442	E073	-5899
chr19	30166462	30166640	E073	-5701
chr19	30166650	30166878	E073	-5463
chr19	30166946	30167215	E073	-5126
chr19	30167310	30167360	E073	-4981
chr19	30167499	30168779	E073	-3562
chr19	30169149	30169304	E073	-3037
chr19	30169337	30169430	E073	-2911
chr19	30169431	30170146	E073	-2195
chr19	30170264	30170314	E073	-2027
chr19	30170469	30170550	E073	-1791
chr19	30170610	30170954	E073	-1387
chr19	30170989	30171109	E073	-1232
chr19	30172378	30173225	E073	37
chr19	30173580	30173631	E073	1239
chr19	30173649	30174353	E073	1308
chr19	30185137	30185282	E073	12796
chr19	30185354	30185935	E073	13013
chr19	30185993	30186228	E073	13652
chr19	30186277	30186468	E073	13936
chr19	30186519	30186583	E073	14178
chr19	30199165	30199394	E073	26824
chr19	30199447	30200304	E073	27106
chr19	30200316	30200433	E073	27975
chr19	30200575	30200654	E073	28234
chr19	30200864	30200904	E073	28523
chr19	30200957	30200997	E073	28616
chr19	30203730	30203936	E073	31389
chr19	30203999	30204391	E073	31658
chr19	30204488	30204565	E073	32147
chr19	30207975	30208090	E073	35634
chr19	30136313	30136732	E074	-35609
chr19	30136750	30137438	E074	-34903
chr19	30153084	30154483	E074	-17858
chr19	30159555	30160313	E074	-12028
chr19	30160342	30160522	E074	-11819
chr19	30160551	30160669	E074	-11672
chr19	30162141	30164772	E074	-7569
chr19	30165589	30165643	E074	-6698
chr19	30165726	30165839	E074	-6502
chr19	30165895	30165947	E074	-6394
chr19	30165955	30166048	E074	-6293
chr19	30166057	30166107	E074	-6234
chr19	30166200	30166254	E074	-6087
chr19	30166268	30166318	E074	-6023
chr19	30166363	30166442	E074	-5899
chr19	30166462	30166640	E074	-5701
chr19	30166650	30166878	E074	-5463
chr19	30166946	30167215	E074	-5126
chr19	30167310	30167360	E074	-4981
chr19	30167499	30168779	E074	-3562
chr19	30169149	30169304	E074	-3037
chr19	30169337	30169430	E074	-2911
chr19	30169431	30170146	E074	-2195
chr19	30170264	30170314	E074	-2027
chr19	30170469	30170550	E074	-1791
chr19	30170610	30170954	E074	-1387
chr19	30170989	30171109	E074	-1232
chr19	30171126	30172250	E074	-91
chr19	30172378	30173225	E074	37
chr19	30173580	30173631	E074	1239
chr19	30173649	30174353	E074	1308
chr19	30174620	30174660	E074	2279
chr19	30174737	30174851	E074	2396
chr19	30179078	30179531	E074	6737
chr19	30179538	30179586	E074	7197
chr19	30184503	30184783	E074	12162
chr19	30184910	30185016	E074	12569
chr19	30185137	30185282	E074	12796
chr19	30185354	30185935	E074	13013
chr19	30185993	30186228	E074	13652
chr19	30207975	30208090	E074	35634
chr19	30208096	30208211	E074	35755
chr19	30203378	30203454	E081	31037
chr19	30203634	30203729	E081	31293
chr19	30203730	30203936	E081	31389
chr19	30203999	30204391	E081	31658
chr19	30204488	30204565	E081	32147

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr19	30154736	30159312	E067	-13029
chr19	30205377	30207932	E067	33036
chr19	30214890	30215657	E067	42549
chr19	30154736	30159312	E068	-13029
chr19	30205377	30207932	E068	33036
chr19	30214890	30215657	E068	42549
chr19	30154736	30159312	E069	-13029
chr19	30205377	30207932	E069	33036
chr19	30214890	30215657	E069	42549
chr19	30205377	30207932	E070	33036
chr19	30214890	30215657	E070	42549
chr19	30205377	30207932	E071	33036
chr19	30214890	30215657	E071	42549
chr19	30154736	30159312	E072	-13029
chr19	30205377	30207932	E072	33036
chr19	30214890	30215657	E072	42549
chr19	30154736	30159312	E073	-13029
chr19	30205377	30207932	E073	33036
chr19	30214890	30215657	E073	42549
chr19	30154736	30159312	E074	-13029
chr19	30205377	30207932	E074	33036
chr19	30214890	30215657	E074	42549
chr19	30205377	30207932	E082	33036
chr19	30214890	30215657	E082	42549