rs7481584

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

CARS : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0262 (7847/29896,GnomAD)
A=0255 (7444/29118,TOPMED)
A=0370 (1854/5008,1000G)
A=0287 (1106/3854,ALSPAC)
A=0274 (1015/3708,TWINSUK)

Position: chr11:3007859 (GRCh38.p7) (11p15.4)

Phenotype: AD

Dataset:

GWASdb2

Publications: 2 publication(s)

Genomic View: See rs on genome

Enhancer: 418 Enhancers around

Promoter: 19 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 11	NC_000011.10:g.3007859G>A
GRCh37.p13 chr 11	NC_000011.9:g.3029089G>A
GRCh38.p7 chr 11 alt locus HSCHR11_1_CTG7	NT_187585.1:g.238917A>G

Gene: CARS, cysteinyl-tRNA synthetase(minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CARS transcript variant 3	NM_001014437.2:c.	N/A	Intron Variant
CARS transcript variant 5	NM_001194997.1:c.	N/A	Intron Variant
CARS transcript variant 2	NM_001751.5:c.	N/A	Intron Variant
CARS transcript variant 1	NM_139273.3:c.	N/A	Intron Variant
CARS transcript variant 4	NR_036542.1:n.	N/A	Intron Variant
CARS transcript variant X8	XM_006718341.3:c.	N/A	Intron Variant
CARS transcript variant X9	XM_017018389.1:c.	N/A	Intron Variant
CARS transcript variant X10	XM_017018390.1:c.	N/A	Intron Variant
CARS transcript variant X15	XM_017018391.1:c.	N/A	Intron Variant
CARS transcript variant X12	XM_017018392.1:c.	N/A	Intron Variant
CARS transcript variant X6	XR_001747995.1:n.	N/A	Intron Variant
CARS transcript variant X7	XR_001747996.1:n.	N/A	Intron Variant
CARS transcript variant X14	XR_001747997.1:n.	N/A	Intron Variant
CARS transcript variant X17	XR_001747998.1:n.	N/A	Intron Variant
CARS transcript variant X1	XR_428857.1:n.	N/A	Intron Variant
CARS transcript variant X7	XR_930913.1:n.	N/A	Intron Variant
CARS transcript variant X16	XR_930914.2:n.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.896	A=0.104
1000Genomes	American	Sub	694	G=0.500	A=0.500
1000Genomes	East Asian	Sub	1008	G=0.338	A=0.662
1000Genomes	Europe	Sub	1006	G=0.708	A=0.292
1000Genomes	Global	Study-wide	5008	G=0.630	A=0.370
1000Genomes	South Asian	Sub	978	G=0.580	A=0.420
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.713	A=0.287
The Genome Aggregation Database	African	Sub	8716	G=0.859	A=0.141
The Genome Aggregation Database	American	Sub	838	G=0.480	A=0.520
The Genome Aggregation Database	East Asian	Sub	1610	G=0.371	A=0.629
The Genome Aggregation Database	Europe	Sub	18430	G=0.725	A=0.275
The Genome Aggregation Database	Global	Study-wide	29896	G=0.737	A=0.262
The Genome Aggregation Database	Other	Sub	302	G=0.660	A=0.340
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.744	A=0.255
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.726	A=0.274

PMID	Title	Author	Journal
20201924	Genome-wide association study of alcohol dependence implicates a region on chromosome 11.	Edenberg HJ	Alcohol Clin Exp Res
24068962	Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.	O'Seaghdha CM	PLoS Genet

P-Value

SNP ID	p-value	Traits	Study
rs7481584	0.000095	alcohol dependence(early age of onset)	20201924
rs7481584	0.0000954	alcoholism	pha002892
rs7481584	0.00047	alcohol dependence	20201924

eQTL of rs7481584 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 rs7481584 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 )
chr11	3003418	3003948	E067	-25141
chr11	3004432	3004472	E067	-24617
chr11	3004475	3004606	E067	-24483
chr11	3008371	3008482	E067	-20607
chr11	3008540	3008614	E067	-20475
chr11	3009068	3009383	E067	-19706
chr11	3019712	3019867	E067	-9222
chr11	3019965	3020015	E067	-9074
chr11	3020608	3020715	E067	-8374
chr11	3020781	3020831	E067	-8258
chr11	3020985	3021035	E067	-8054
chr11	3021343	3023046	E067	-6043
chr11	3023113	3023234	E067	-5855
chr11	3023243	3023293	E067	-5796
chr11	3023311	3023375	E067	-5714
chr11	3023531	3023614	E067	-5475
chr11	3023854	3023904	E067	-5185
chr11	3024234	3024284	E067	-4805
chr11	3024540	3024669	E067	-4420
chr11	3024686	3024736	E067	-4353
chr11	3025052	3025109	E067	-3980
chr11	3025157	3025416	E067	-3673
chr11	3025673	3025723	E067	-3366
chr11	3042022	3042072	E067	12933
chr11	3042262	3042740	E067	13173
chr11	3051179	3051219	E067	22090
chr11	3051380	3051434	E067	22291
chr11	3051514	3051804	E067	22425
chr11	3056446	3056535	E067	27357
chr11	3056618	3056925	E067	27529
chr11	3057609	3058080	E067	28520
chr11	3062966	3063295	E067	33877
chr11	3063320	3063649	E067	34231
chr11	3063724	3064341	E067	34635
chr11	3064352	3064467	E067	35263
chr11	3064472	3064738	E067	35383
chr11	3064790	3065068	E067	35701
chr11	3065189	3065537	E067	36100
chr11	3066948	3067262	E067	37859
chr11	3067533	3067642	E067	38444
chr11	3070143	3070222	E067	41054
chr11	3070525	3070657	E067	41436
chr11	3071953	3072606	E067	42864
chr11	3072631	3072772	E067	43542
chr11	3072796	3072945	E067	43707
chr11	3073012	3073201	E067	43923
chr11	3073296	3073612	E067	44207
chr11	3073694	3073734	E067	44605
chr11	3073811	3073861	E067	44722
chr11	3073883	3074165	E067	44794
chr11	3074170	3074250	E067	45081
chr11	3074337	3074387	E067	45248
chr11	3076789	3076854	E067	47700
chr11	3077156	3077285	E067	48067
chr11	3003418	3003948	E068	-25141
chr11	3004432	3004472	E068	-24617
chr11	3004475	3004606	E068	-24483
chr11	3004631	3004681	E068	-24408
chr11	3004788	3004842	E068	-24247
chr11	3020608	3020715	E068	-8374
chr11	3020781	3020831	E068	-8258
chr11	3020985	3021035	E068	-8054
chr11	3023113	3023234	E068	-5855
chr11	3023243	3023293	E068	-5796
chr11	3023311	3023375	E068	-5714
chr11	3023531	3023614	E068	-5475
chr11	3023854	3023904	E068	-5185
chr11	3024234	3024284	E068	-4805
chr11	3024540	3024669	E068	-4420
chr11	3024686	3024736	E068	-4353
chr11	3025052	3025109	E068	-3980
chr11	3025157	3025416	E068	-3673
chr11	3025673	3025723	E068	-3366
chr11	3025988	3026062	E068	-3027
chr11	3027101	3027156	E068	-1933
chr11	3042022	3042072	E068	12933
chr11	3042262	3042740	E068	13173
chr11	3042989	3043063	E068	13900
chr11	3043250	3043327	E068	14161
chr11	3043470	3044622	E068	14381
chr11	3058301	3059394	E068	29212
chr11	3062966	3063295	E068	33877
chr11	3063320	3063649	E068	34231
chr11	3063724	3064341	E068	34635
chr11	3064352	3064467	E068	35263
chr11	3064472	3064738	E068	35383
chr11	3064790	3065068	E068	35701
chr11	3065189	3065537	E068	36100
chr11	3070525	3070657	E068	41436
chr11	3071953	3072606	E068	42864
chr11	3072631	3072772	E068	43542
chr11	3072796	3072945	E068	43707
chr11	3073012	3073201	E068	43923
chr11	3073296	3073612	E068	44207
chr11	3077156	3077285	E068	48067
chr11	2996892	2997117	E069	-31972
chr11	2997137	2997477	E069	-31612
chr11	2997539	2997788	E069	-31301
chr11	2997804	2998183	E069	-30906
chr11	3003418	3003948	E069	-25141
chr11	3004432	3004472	E069	-24617
chr11	3004475	3004606	E069	-24483
chr11	3004631	3004681	E069	-24408
chr11	3004788	3004842	E069	-24247
chr11	3008371	3008482	E069	-20607
chr11	3020608	3020715	E069	-8374
chr11	3020781	3020831	E069	-8258
chr11	3020985	3021035	E069	-8054
chr11	3023113	3023234	E069	-5855
chr11	3023243	3023293	E069	-5796
chr11	3023311	3023375	E069	-5714
chr11	3023531	3023614	E069	-5475
chr11	3023854	3023904	E069	-5185
chr11	3024234	3024284	E069	-4805
chr11	3024540	3024669	E069	-4420
chr11	3024686	3024736	E069	-4353
chr11	3025052	3025109	E069	-3980
chr11	3025157	3025416	E069	-3673
chr11	3031065	3031130	E069	1976
chr11	3031201	3031261	E069	2112
chr11	3041850	3041909	E069	12761
chr11	3042022	3042072	E069	12933
chr11	3042262	3042740	E069	13173
chr11	3043470	3044622	E069	14381
chr11	3044667	3044748	E069	15578
chr11	3050174	3050295	E069	21085
chr11	3050337	3050432	E069	21248
chr11	3050556	3050763	E069	21467
chr11	3051179	3051219	E069	22090
chr11	3051380	3051434	E069	22291
chr11	3051514	3051804	E069	22425
chr11	3058301	3059394	E069	29212
chr11	3062966	3063295	E069	33877
chr11	3063320	3063649	E069	34231
chr11	3063724	3064341	E069	34635
chr11	3064352	3064467	E069	35263
chr11	3064472	3064738	E069	35383
chr11	3064790	3065068	E069	35701
chr11	3065189	3065537	E069	36100
chr11	3069088	3069175	E069	39999
chr11	3069697	3069741	E069	40608
chr11	3070143	3070222	E069	41054
chr11	3071953	3072606	E069	42864
chr11	3072631	3072772	E069	43542
chr11	3072796	3072945	E069	43707
chr11	3073012	3073201	E069	43923
chr11	3073296	3073612	E069	44207
chr11	3073694	3073734	E069	44605
chr11	3073811	3073861	E069	44722
chr11	3073883	3074165	E069	44794
chr11	3074170	3074250	E069	45081
chr11	3003300	3003360	E070	-25729
chr11	3003418	3003948	E070	-25141
chr11	3070525	3070657	E070	41436
chr11	3073811	3073861	E070	44722
chr11	3076789	3076854	E070	47700
chr11	3077156	3077285	E070	48067
chr11	3003418	3003948	E071	-25141
chr11	3004432	3004472	E071	-24617
chr11	3004475	3004606	E071	-24483
chr11	3004631	3004681	E071	-24408
chr11	3004788	3004842	E071	-24247
chr11	3004940	3004995	E071	-24094
chr11	3008371	3008482	E071	-20607
chr11	3008540	3008614	E071	-20475
chr11	3009068	3009383	E071	-19706
chr11	3020608	3020715	E071	-8374
chr11	3020781	3020831	E071	-8258
chr11	3020985	3021035	E071	-8054
chr11	3023113	3023234	E071	-5855
chr11	3023243	3023293	E071	-5796
chr11	3023311	3023375	E071	-5714
chr11	3023531	3023614	E071	-5475
chr11	3023854	3023904	E071	-5185
chr11	3024234	3024284	E071	-4805
chr11	3024540	3024669	E071	-4420
chr11	3024686	3024736	E071	-4353
chr11	3025052	3025109	E071	-3980
chr11	3025157	3025416	E071	-3673
chr11	3025673	3025723	E071	-3366
chr11	3030921	3030975	E071	1832
chr11	3031065	3031130	E071	1976
chr11	3031201	3031261	E071	2112
chr11	3034658	3034866	E071	5569
chr11	3035063	3035174	E071	5974
chr11	3036512	3036578	E071	7423
chr11	3036655	3036836	E071	7566
chr11	3041850	3041909	E071	12761
chr11	3042022	3042072	E071	12933
chr11	3042262	3042740	E071	13173
chr11	3050337	3050432	E071	21248
chr11	3050556	3050763	E071	21467
chr11	3051179	3051219	E071	22090
chr11	3051380	3051434	E071	22291
chr11	3051514	3051804	E071	22425
chr11	3051865	3052209	E071	22776
chr11	3057609	3058080	E071	28520
chr11	3058301	3059394	E071	29212
chr11	3062966	3063295	E071	33877
chr11	3063320	3063649	E071	34231
chr11	3063724	3064341	E071	34635
chr11	3064352	3064467	E071	35263
chr11	3064472	3064738	E071	35383
chr11	3064790	3065068	E071	35701
chr11	3065189	3065537	E071	36100
chr11	3065970	3066020	E071	36881
chr11	3067533	3067642	E071	38444
chr11	3069576	3069626	E071	40487
chr11	3069697	3069741	E071	40608
chr11	3070143	3070222	E071	41054
chr11	3071953	3072606	E071	42864
chr11	3072631	3072772	E071	43542
chr11	3072796	3072945	E071	43707
chr11	3073012	3073201	E071	43923
chr11	3073296	3073612	E071	44207
chr11	3073694	3073734	E071	44605
chr11	3073811	3073861	E071	44722
chr11	3073883	3074165	E071	44794
chr11	3074786	3074867	E071	45697
chr11	3074905	3074959	E071	45816
chr11	3075108	3075172	E071	46019
chr11	3075519	3075651	E071	46430
chr11	3075809	3075895	E071	46720
chr11	3075926	3076058	E071	46837
chr11	3076092	3076146	E071	47003
chr11	3076789	3076854	E071	47700
chr11	2986027	2986242	E072	-42847
chr11	2986349	2986409	E072	-42680
chr11	2996892	2997117	E072	-31972
chr11	2997137	2997477	E072	-31612
chr11	2997539	2997788	E072	-31301
chr11	2997804	2998183	E072	-30906
chr11	3002462	3002554	E072	-26535
chr11	3002694	3002744	E072	-26345
chr11	3003056	3003286	E072	-25803
chr11	3003300	3003360	E072	-25729
chr11	3003418	3003948	E072	-25141
chr11	3004432	3004472	E072	-24617
chr11	3004475	3004606	E072	-24483
chr11	3004631	3004681	E072	-24408
chr11	3004788	3004842	E072	-24247
chr11	3004940	3004995	E072	-24094
chr11	3009068	3009383	E072	-19706
chr11	3020608	3020715	E072	-8374
chr11	3020781	3020831	E072	-8258
chr11	3020985	3021035	E072	-8054
chr11	3021343	3023046	E072	-6043
chr11	3023113	3023234	E072	-5855
chr11	3023243	3023293	E072	-5796
chr11	3023311	3023375	E072	-5714
chr11	3023531	3023614	E072	-5475
chr11	3023854	3023904	E072	-5185
chr11	3024234	3024284	E072	-4805
chr11	3024540	3024669	E072	-4420
chr11	3024686	3024736	E072	-4353
chr11	3025052	3025109	E072	-3980
chr11	3025157	3025416	E072	-3673
chr11	3025673	3025723	E072	-3366
chr11	3025988	3026062	E072	-3027
chr11	3030921	3030975	E072	1832
chr11	3031065	3031130	E072	1976
chr11	3031201	3031261	E072	2112
chr11	3031751	3031801	E072	2662
chr11	3031963	3032013	E072	2874
chr11	3032182	3032490	E072	3093
chr11	3036655	3036836	E072	7566
chr11	3036851	3036917	E072	7762
chr11	3041850	3041909	E072	12761
chr11	3042022	3042072	E072	12933
chr11	3042262	3042740	E072	13173
chr11	3051179	3051219	E072	22090
chr11	3051380	3051434	E072	22291
chr11	3051514	3051804	E072	22425
chr11	3057609	3058080	E072	28520
chr11	3058301	3059394	E072	29212
chr11	3062966	3063295	E072	33877
chr11	3063320	3063649	E072	34231
chr11	3063724	3064341	E072	34635
chr11	3064352	3064467	E072	35263
chr11	3064472	3064738	E072	35383
chr11	3064790	3065068	E072	35701
chr11	3065189	3065537	E072	36100
chr11	3065970	3066020	E072	36881
chr11	3066028	3066093	E072	36939
chr11	3066126	3066207	E072	37037
chr11	3066948	3067262	E072	37859
chr11	3067533	3067642	E072	38444
chr11	3070143	3070222	E072	41054
chr11	3071953	3072606	E072	42864
chr11	3072631	3072772	E072	43542
chr11	3072796	3072945	E072	43707
chr11	3073012	3073201	E072	43923
chr11	3073296	3073612	E072	44207
chr11	3073694	3073734	E072	44605
chr11	3073811	3073861	E072	44722
chr11	3073883	3074165	E072	44794
chr11	3076789	3076854	E072	47700
chr11	2997539	2997788	E073	-31301
chr11	2997804	2998183	E073	-30906
chr11	3003056	3003286	E073	-25803
chr11	3003300	3003360	E073	-25729
chr11	3003418	3003948	E073	-25141
chr11	3008174	3008263	E073	-20826
chr11	3008371	3008482	E073	-20607
chr11	3008540	3008614	E073	-20475
chr11	3009068	3009383	E073	-19706
chr11	3020608	3020715	E073	-8374
chr11	3020781	3020831	E073	-8258
chr11	3020985	3021035	E073	-8054
chr11	3021343	3023046	E073	-6043
chr11	3023113	3023234	E073	-5855
chr11	3023243	3023293	E073	-5796
chr11	3023311	3023375	E073	-5714
chr11	3023531	3023614	E073	-5475
chr11	3023854	3023904	E073	-5185
chr11	3024234	3024284	E073	-4805
chr11	3025157	3025416	E073	-3673
chr11	3025673	3025723	E073	-3366
chr11	3030921	3030975	E073	1832
chr11	3031065	3031130	E073	1976
chr11	3031201	3031261	E073	2112
chr11	3042022	3042072	E073	12933
chr11	3042262	3042740	E073	13173
chr11	3051179	3051219	E073	22090
chr11	3051380	3051434	E073	22291
chr11	3051514	3051804	E073	22425
chr11	3057609	3058080	E073	28520
chr11	3058301	3059394	E073	29212
chr11	3062966	3063295	E073	33877
chr11	3063320	3063649	E073	34231
chr11	3063724	3064341	E073	34635
chr11	3064352	3064467	E073	35263
chr11	3064472	3064738	E073	35383
chr11	3064790	3065068	E073	35701
chr11	3065189	3065537	E073	36100
chr11	3070143	3070222	E073	41054
chr11	3071953	3072606	E073	42864
chr11	3072631	3072772	E073	43542
chr11	3072796	3072945	E073	43707
chr11	3073012	3073201	E073	43923
chr11	3073296	3073612	E073	44207
chr11	3073694	3073734	E073	44605
chr11	3073811	3073861	E073	44722
chr11	3073883	3074165	E073	44794
chr11	3074170	3074250	E073	45081
chr11	3075519	3075651	E073	46430
chr11	3075809	3075895	E073	46720
chr11	3077156	3077285	E073	48067
chr11	2999903	3000044	E074	-29045
chr11	3003056	3003286	E074	-25803
chr11	3003300	3003360	E074	-25729
chr11	3003418	3003948	E074	-25141
chr11	3004432	3004472	E074	-24617
chr11	3004475	3004606	E074	-24483
chr11	3004631	3004681	E074	-24408
chr11	3004788	3004842	E074	-24247
chr11	3004940	3004995	E074	-24094
chr11	3008174	3008263	E074	-20826
chr11	3008371	3008482	E074	-20607
chr11	3008540	3008614	E074	-20475
chr11	3018826	3018892	E074	-10197
chr11	3019055	3019389	E074	-9700
chr11	3020608	3020715	E074	-8374
chr11	3020781	3020831	E074	-8258
chr11	3020985	3021035	E074	-8054
chr11	3021343	3023046	E074	-6043
chr11	3023113	3023234	E074	-5855
chr11	3023531	3023614	E074	-5475
chr11	3023854	3023904	E074	-5185
chr11	3024234	3024284	E074	-4805
chr11	3024540	3024669	E074	-4420
chr11	3024686	3024736	E074	-4353
chr11	3025052	3025109	E074	-3980
chr11	3025157	3025416	E074	-3673
chr11	3025673	3025723	E074	-3366
chr11	3026636	3026866	E074	-2223
chr11	3026937	3026988	E074	-2101
chr11	3027101	3027156	E074	-1933
chr11	3031065	3031130	E074	1976
chr11	3031201	3031261	E074	2112
chr11	3031751	3031801	E074	2662
chr11	3035063	3035174	E074	5974
chr11	3041850	3041909	E074	12761
chr11	3042022	3042072	E074	12933
chr11	3042262	3042740	E074	13173
chr11	3051179	3051219	E074	22090
chr11	3051380	3051434	E074	22291
chr11	3051514	3051804	E074	22425
chr11	3051865	3052209	E074	22776
chr11	3058301	3059394	E074	29212
chr11	3062966	3063295	E074	33877
chr11	3063320	3063649	E074	34231
chr11	3063724	3064341	E074	34635
chr11	3064352	3064467	E074	35263
chr11	3064472	3064738	E074	35383
chr11	3064790	3065068	E074	35701
chr11	3065189	3065537	E074	36100
chr11	3067533	3067642	E074	38444
chr11	3070143	3070222	E074	41054
chr11	3071953	3072606	E074	42864
chr11	3072631	3072772	E074	43542
chr11	3072796	3072945	E074	43707
chr11	3073012	3073201	E074	43923
chr11	3073296	3073612	E074	44207
chr11	3073694	3073734	E074	44605
chr11	3073811	3073861	E074	44722
chr11	3073883	3074165	E074	44794
chr11	3077156	3077285	E074	48067
chr11	3020781	3020831	E081	-8258
chr11	3020985	3021035	E081	-8054
chr11	3021343	3023046	E081	-6043
chr11	3070781	3071702	E081	41692
chr11	3076495	3076545	E081	47406
chr11	3077156	3077285	E081	48067
chr11	3009068	3009383	E082	-19706
chr11	3021343	3023046	E082	-6043
chr11	3076789	3076854	E082	47700
chr11	3077156	3077285	E082	48067

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr11	3011771	3011832	E067	-17257
chr11	3011858	3014423	E067	-14666
chr11	3011771	3011832	E068	-17257
chr11	3011858	3014423	E068	-14666
chr11	3011771	3011832	E069	-17257
chr11	3011858	3014423	E069	-14666
chr11	3011771	3011832	E070	-17257
chr11	3011858	3014423	E070	-14666
chr11	3011771	3011832	E071	-17257
chr11	3011858	3014423	E071	-14666
chr11	3011771	3011832	E072	-17257
chr11	3011858	3014423	E072	-14666
chr11	3011771	3011832	E073	-17257
chr11	3011858	3014423	E073	-14666
chr11	3011771	3011832	E074	-17257
chr11	3011858	3014423	E074	-14666
chr11	3011771	3011832	E081	-17257
chr11	3011771	3011832	E082	-17257
chr11	3011858	3014423	E082	-14666