rs11211383

Organism: Homo sapiens

Alleles: T>G

Gene : Feature

UTP11 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0210 (6316/29950,GnomAD)
G=0202 (5905/29118,TOPMED)
G=0174 (872/5008,1000G)
G=0270 (1042/3854,ALSPAC)
G=0268 (995/3708,TWINSUK)

Position: chr1:38016684 (GRCh38.p7) (1p34.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 185 Enhancers around

Promoter: 113 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.38016684T>G
GRCh37.p13 chr 1	NC_000001.10:g.38482356T>G

Gene: UTP11, UTP11, small subunit processome component homolog (S. cerevisiae)(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
UTP11 transcript	NM_016037.3:c.	N/A	Intron Variant
UTP11 transcript variant X1	XM_011541555.2:c.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	T=0.918	G=0.082
1000Genomes	American	Sub	694	T=0.800	G=0.200
1000Genomes	East Asian	Sub	1008	T=0.940	G=0.060
1000Genomes	Europe	Sub	1006	T=0.722	G=0.278
1000Genomes	Global	Study-wide	5008	T=0.826	G=0.174
1000Genomes	South Asian	Sub	978	T=0.710	G=0.290
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.730	G=0.270
The Genome Aggregation Database	African	Sub	8722	T=0.882	G=0.118
The Genome Aggregation Database	American	Sub	836	T=0.760	G=0.240
The Genome Aggregation Database	East Asian	Sub	1618	T=0.937	G=0.063
The Genome Aggregation Database	Europe	Sub	18472	T=0.735	G=0.264
The Genome Aggregation Database	Global	Study-wide	29950	T=0.789	G=0.210
The Genome Aggregation Database	Other	Sub	302	T=0.700	G=0.300
Trans-Omics for Precision Medicine	Global	Study-wide	29118	T=0.797	G=0.202
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.732	G=0.268

PMID	Title	Author	Journal
23953852	Genome-wide association studies of maximum number of drinks.	Pan Y	J Psychiatr Res

P-Value

SNP ID	p-value	Traits	Study
rs11211383	1.12E-05	alcohol consumption	23953852

eQTL of rs11211383 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 rs11211383 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 )
chr1	38454036	38454076	E067	-28280
chr1	38464380	38464420	E067	-17936
chr1	38464652	38464730	E067	-17626
chr1	38464881	38467574	E067	-14782
chr1	38480001	38480101	E067	-2255
chr1	38481741	38482404	E067	0
chr1	38494015	38494199	E067	11659
chr1	38494241	38494615	E067	11885
chr1	38494637	38495449	E067	12281
chr1	38495475	38496556	E067	13119
chr1	38454036	38454076	E068	-28280
chr1	38462735	38462830	E068	-19526
chr1	38463957	38464023	E068	-18333
chr1	38464380	38464420	E068	-17936
chr1	38464652	38464730	E068	-17626
chr1	38464747	38464856	E068	-17500
chr1	38464881	38467574	E068	-14782
chr1	38469065	38469136	E068	-13220
chr1	38480001	38480101	E068	-2255
chr1	38481741	38482404	E068	0
chr1	38492307	38493710	E068	9951
chr1	38493718	38493956	E068	11362
chr1	38494015	38494199	E068	11659
chr1	38494241	38494615	E068	11885
chr1	38494637	38495449	E068	12281
chr1	38495475	38496556	E068	13119
chr1	38505559	38505609	E068	23203
chr1	38505697	38505751	E068	23341
chr1	38505889	38505969	E068	23533
chr1	38454036	38454076	E069	-28280
chr1	38462625	38462727	E069	-19629
chr1	38462735	38462830	E069	-19526
chr1	38464652	38464730	E069	-17626
chr1	38464747	38464856	E069	-17500
chr1	38464881	38467574	E069	-14782
chr1	38480001	38480101	E069	-2255
chr1	38481741	38482404	E069	0
chr1	38494241	38494615	E069	11885
chr1	38494637	38495449	E069	12281
chr1	38495475	38496556	E069	13119
chr1	38496639	38497378	E069	14283
chr1	38525974	38526096	E069	43618
chr1	38454036	38454076	E070	-28280
chr1	38463006	38463103	E070	-19253
chr1	38463167	38463240	E070	-19116
chr1	38463348	38463434	E070	-18922
chr1	38480001	38480101	E070	-2255
chr1	38481741	38482404	E070	0
chr1	38492307	38493710	E070	9951
chr1	38493718	38493956	E070	11362
chr1	38494015	38494199	E070	11659
chr1	38494241	38494615	E070	11885
chr1	38495475	38496556	E070	13119
chr1	38496639	38497378	E070	14283
chr1	38504467	38504518	E070	22111
chr1	38504682	38504817	E070	22326
chr1	38504991	38505309	E070	22635
chr1	38505559	38505609	E070	23203
chr1	38507232	38508538	E070	24876
chr1	38516593	38516755	E070	34237
chr1	38516791	38517073	E070	34435
chr1	38517177	38517266	E070	34821
chr1	38517483	38517866	E070	35127
chr1	38518853	38519102	E070	36497
chr1	38519111	38519306	E070	36755
chr1	38519320	38519593	E070	36964
chr1	38519757	38519797	E070	37401
chr1	38525473	38525877	E070	43117
chr1	38525974	38526096	E070	43618
chr1	38526710	38526764	E070	44354
chr1	38527726	38527848	E070	45370
chr1	38528488	38528715	E070	46132
chr1	38528727	38528875	E070	46371
chr1	38529394	38529640	E070	47038
chr1	38529726	38530474	E070	47370
chr1	38454036	38454076	E071	-28280
chr1	38462625	38462727	E071	-19629
chr1	38462735	38462830	E071	-19526
chr1	38463006	38463103	E071	-19253
chr1	38463167	38463240	E071	-19116
chr1	38463348	38463434	E071	-18922
chr1	38463957	38464023	E071	-18333
chr1	38464380	38464420	E071	-17936
chr1	38464881	38467574	E071	-14782
chr1	38469065	38469136	E071	-13220
chr1	38480001	38480101	E071	-2255
chr1	38481741	38482404	E071	0
chr1	38494241	38494615	E071	11885
chr1	38494637	38495449	E071	12281
chr1	38495475	38496556	E071	13119
chr1	38496639	38497378	E071	14283
chr1	38464652	38464730	E072	-17626
chr1	38464747	38464856	E072	-17500
chr1	38464881	38467574	E072	-14782
chr1	38469065	38469136	E072	-13220
chr1	38480001	38480101	E072	-2255
chr1	38481741	38482404	E072	0
chr1	38494637	38495449	E072	12281
chr1	38495475	38496556	E072	13119
chr1	38529726	38530474	E072	47370
chr1	38454036	38454076	E073	-28280
chr1	38462625	38462727	E073	-19629
chr1	38462735	38462830	E073	-19526
chr1	38463006	38463103	E073	-19253
chr1	38463167	38463240	E073	-19116
chr1	38464380	38464420	E073	-17936
chr1	38464652	38464730	E073	-17626
chr1	38464747	38464856	E073	-17500
chr1	38464881	38467574	E073	-14782
chr1	38469065	38469136	E073	-13220
chr1	38480001	38480101	E073	-2255
chr1	38494015	38494199	E073	11659
chr1	38494241	38494615	E073	11885
chr1	38494637	38495449	E073	12281
chr1	38495475	38496556	E073	13119
chr1	38496639	38497378	E073	14283
chr1	38454036	38454076	E074	-28280
chr1	38464380	38464420	E074	-17936
chr1	38464747	38464856	E074	-17500
chr1	38464881	38467574	E074	-14782
chr1	38480001	38480101	E074	-2255
chr1	38481741	38482404	E074	0
chr1	38494241	38494615	E074	11885
chr1	38494637	38495449	E074	12281
chr1	38495475	38496556	E074	13119
chr1	38496639	38497378	E074	14283
chr1	38529394	38529640	E074	47038
chr1	38529726	38530474	E074	47370
chr1	38454036	38454076	E081	-28280
chr1	38462625	38462727	E081	-19629
chr1	38462735	38462830	E081	-19526
chr1	38492307	38493710	E081	9951
chr1	38493718	38493956	E081	11362
chr1	38494015	38494199	E081	11659
chr1	38494241	38494615	E081	11885
chr1	38494637	38495449	E081	12281
chr1	38495475	38496556	E081	13119
chr1	38504467	38504518	E081	22111
chr1	38504682	38504817	E081	22326
chr1	38504991	38505309	E081	22635
chr1	38505559	38505609	E081	23203
chr1	38505697	38505751	E081	23341
chr1	38505889	38505969	E081	23533
chr1	38506282	38506453	E081	23926
chr1	38506636	38506688	E081	24280
chr1	38507232	38508538	E081	24876
chr1	38516156	38516297	E081	33800
chr1	38516593	38516755	E081	34237
chr1	38516791	38517073	E081	34435
chr1	38517177	38517266	E081	34821
chr1	38517483	38517866	E081	35127
chr1	38518853	38519102	E081	36497
chr1	38519111	38519306	E081	36755
chr1	38519320	38519593	E081	36964
chr1	38525473	38525877	E081	43117
chr1	38525974	38526096	E081	43618
chr1	38526710	38526764	E081	44354
chr1	38527726	38527848	E081	45370
chr1	38528488	38528715	E081	46132
chr1	38528727	38528875	E081	46371
chr1	38529394	38529640	E081	47038
chr1	38529726	38530474	E081	47370
chr1	38454036	38454076	E082	-28280
chr1	38480001	38480101	E082	-2255
chr1	38492307	38493710	E082	9951
chr1	38493718	38493956	E082	11362
chr1	38494015	38494199	E082	11659
chr1	38495475	38496556	E082	13119
chr1	38496639	38497378	E082	14283
chr1	38504467	38504518	E082	22111
chr1	38504682	38504817	E082	22326
chr1	38505559	38505609	E082	23203
chr1	38505697	38505751	E082	23341
chr1	38505889	38505969	E082	23533
chr1	38515672	38515712	E082	33316
chr1	38516156	38516297	E082	33800
chr1	38517177	38517266	E082	34821
chr1	38517483	38517866	E082	35127
chr1	38518853	38519102	E082	36497
chr1	38519111	38519306	E082	36755
chr1	38519320	38519593	E082	36964
chr1	38519757	38519797	E082	37401
chr1	38528727	38528875	E082	46371
chr1	38529394	38529640	E082	47038
chr1	38529726	38530474	E082	47370

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr1	38455034	38456186	E067	-26170
chr1	38456192	38456282	E067	-26074
chr1	38460815	38462593	E067	-19763
chr1	38470824	38470936	E067	-11420
chr1	38470948	38472431	E067	-9925
chr1	38477873	38479274	E067	-3082
chr1	38509885	38510248	E067	27529
chr1	38510372	38510550	E067	28016
chr1	38510603	38510668	E067	28247
chr1	38510806	38510937	E067	28450
chr1	38511009	38511722	E067	28653
chr1	38511765	38511839	E067	29409
chr1	38511840	38511890	E067	29484
chr1	38512146	38512345	E067	29790
chr1	38512408	38513901	E067	30052
chr1	38455034	38456186	E068	-26170
chr1	38456192	38456282	E068	-26074
chr1	38460815	38462593	E068	-19763
chr1	38477873	38479274	E068	-3082
chr1	38509091	38509324	E068	26735
chr1	38509885	38510248	E068	27529
chr1	38510372	38510550	E068	28016
chr1	38510603	38510668	E068	28247
chr1	38510806	38510937	E068	28450
chr1	38511009	38511722	E068	28653
chr1	38511765	38511839	E068	29409
chr1	38511840	38511890	E068	29484
chr1	38512146	38512345	E068	29790
chr1	38512408	38513901	E068	30052
chr1	38455034	38456186	E069	-26170
chr1	38456192	38456282	E069	-26074
chr1	38470824	38470936	E069	-11420
chr1	38470948	38472431	E069	-9925
chr1	38477873	38479274	E069	-3082
chr1	38510372	38510550	E069	28016
chr1	38510603	38510668	E069	28247
chr1	38510806	38510937	E069	28450
chr1	38511840	38511890	E069	29484
chr1	38512146	38512345	E069	29790
chr1	38512408	38513901	E069	30052
chr1	38455034	38456186	E070	-26170
chr1	38456192	38456282	E070	-26074
chr1	38460815	38462593	E070	-19763
chr1	38470824	38470936	E070	-11420
chr1	38470948	38472431	E070	-9925
chr1	38477873	38479274	E070	-3082
chr1	38510806	38510937	E070	28450
chr1	38511009	38511722	E070	28653
chr1	38511765	38511839	E070	29409
chr1	38511840	38511890	E070	29484
chr1	38512146	38512345	E070	29790
chr1	38512408	38513901	E070	30052
chr1	38455034	38456186	E071	-26170
chr1	38456192	38456282	E071	-26074
chr1	38460815	38462593	E071	-19763
chr1	38477873	38479274	E071	-3082
chr1	38509885	38510248	E071	27529
chr1	38510806	38510937	E071	28450
chr1	38511765	38511839	E071	29409
chr1	38511840	38511890	E071	29484
chr1	38512146	38512345	E071	29790
chr1	38512408	38513901	E071	30052
chr1	38455034	38456186	E072	-26170
chr1	38456192	38456282	E072	-26074
chr1	38470824	38470936	E072	-11420
chr1	38470948	38472431	E072	-9925
chr1	38477873	38479274	E072	-3082
chr1	38509885	38510248	E072	27529
chr1	38510372	38510550	E072	28016
chr1	38510603	38510668	E072	28247
chr1	38510806	38510937	E072	28450
chr1	38511765	38511839	E072	29409
chr1	38511840	38511890	E072	29484
chr1	38512146	38512345	E072	29790
chr1	38512408	38513901	E072	30052
chr1	38455034	38456186	E073	-26170
chr1	38456192	38456282	E073	-26074
chr1	38470824	38470936	E073	-11420
chr1	38470948	38472431	E073	-9925
chr1	38477873	38479274	E073	-3082
chr1	38509885	38510248	E073	27529
chr1	38510372	38510550	E073	28016
chr1	38510603	38510668	E073	28247
chr1	38510806	38510937	E073	28450
chr1	38511009	38511722	E073	28653
chr1	38511765	38511839	E073	29409
chr1	38511840	38511890	E073	29484
chr1	38512146	38512345	E073	29790
chr1	38512408	38513901	E073	30052
chr1	38455034	38456186	E074	-26170
chr1	38456192	38456282	E074	-26074
chr1	38477873	38479274	E074	-3082
chr1	38510806	38510937	E074	28450
chr1	38512146	38512345	E074	29790
chr1	38512408	38513901	E074	30052
chr1	38455034	38456186	E081	-26170
chr1	38456192	38456282	E081	-26074
chr1	38477873	38479274	E081	-3082
chr1	38455034	38456186	E082	-26170
chr1	38456192	38456282	E082	-26074
chr1	38460815	38462593	E082	-19763
chr1	38470824	38470936	E082	-11420
chr1	38470948	38472431	E082	-9925
chr1	38477873	38479274	E082	-3082
chr1	38509091	38509324	E082	26735
chr1	38510372	38510550	E082	28016
chr1	38510603	38510668	E082	28247
chr1	38510806	38510937	E082	28450
chr1	38511009	38511722	E082	28653
chr1	38511765	38511839	E082	29409
chr1	38511840	38511890	E082	29484
chr1	38512146	38512345	E082	29790
chr1	38512408	38513901	E082	30052