rs3018100

Organism: Homo sapiens

Alleles: C>G

Gene : Feature

RPS3 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0263 (7881/29916,GnomAD)
G=0246 (7179/29118,TOPMED)
G=0204 (1021/5008,1000G)
G=0377 (1454/3854,ALSPAC)
G=0373 (1383/3708,TWINSUK)

Position: chr11:75417295 (GRCh38.p7) (11q13.4)

Phenotype: AD

Dataset:

GWASCatalog

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 164 Enhancers around

Promoter: 17 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 11	NC_000011.10:g.75417295C>G
GRCh37.p13 chr 11	NC_000011.9:g.75128339C>G

Gene: RPS3, ribosomal protein S3(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
RPS3 transcript variant 2	NM_001256802.1:c.	N/A	Intron Variant
RPS3 transcript variant 1	NM_001005.4:c.	N/A	Genic Downstream Transcript Variant
RPS3 transcript variant 3	NM_001260506.1:c.	N/A	Genic Downstream Transcript Variant
RPS3 transcript variant 4	NM_001260507.1:c.	N/A	Genic Downstream Transcript Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.902	G=0.098
1000Genomes	American	Sub	694	C=0.790	G=0.210
1000Genomes	East Asian	Sub	1008	C=0.783	G=0.217
1000Genomes	Europe	Sub	1006	C=0.674	G=0.326
1000Genomes	Global	Study-wide	5008	C=0.796	G=0.204
1000Genomes	South Asian	Sub	978	C=0.790	G=0.210
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.623	G=0.377
The Genome Aggregation Database	African	Sub	8716	C=0.862	G=0.138
The Genome Aggregation Database	American	Sub	834	C=0.790	G=0.210
The Genome Aggregation Database	East Asian	Sub	1610	C=0.770	G=0.230
The Genome Aggregation Database	Europe	Sub	18454	C=0.673	G=0.326
The Genome Aggregation Database	Global	Study-wide	29916	C=0.736	G=0.263
The Genome Aggregation Database	Other	Sub	302	C=0.650	G=0.350
Trans-Omics for Precision Medicine	Global	Study-wide	29118	C=0.753	G=0.246
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.627	G=0.373

PMID	Title	Author	Journal
29071344	Genetic Risk Variants Associated With Comorbid Alcohol Dependence and Major Depression.	Zhou H	JAMA Psychiatry

SNP ID	p-value	Traits	Study
rs3018100	5E-06	alcohol dependence	29071344

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
There is no eQTL annotation for this SNP

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	75095360	75096110	E067	-32229
chr11	75131684	75131744	E067	3345
chr11	75131764	75131868	E067	3425
chr11	75131999	75132039	E067	3660
chr11	75132099	75132204	E067	3760
chr11	75132269	75132386	E067	3930
chr11	75132392	75132854	E067	4053
chr11	75095360	75096110	E068	-32229
chr11	75099306	75100628	E068	-27711
chr11	75112235	75112498	E068	-15841
chr11	75112635	75112685	E068	-15654
chr11	75112748	75112823	E068	-15516
chr11	75113049	75113240	E068	-15099
chr11	75113270	75113320	E068	-15019
chr11	75113363	75113766	E068	-14573
chr11	75113785	75114046	E068	-14293
chr11	75114071	75114443	E068	-13896
chr11	75114455	75114520	E068	-13819
chr11	75114548	75114602	E068	-13737
chr11	75131764	75131868	E068	3425
chr11	75131999	75132039	E068	3660
chr11	75132099	75132204	E068	3760
chr11	75132269	75132386	E068	3930
chr11	75132392	75132854	E068	4053
chr11	75165422	75165671	E068	37083
chr11	75165685	75165860	E068	37346
chr11	75095360	75096110	E069	-32229
chr11	75099306	75100628	E069	-27711
chr11	75131383	75131542	E069	3044
chr11	75131684	75131744	E069	3345
chr11	75131764	75131868	E069	3425
chr11	75131999	75132039	E069	3660
chr11	75132099	75132204	E069	3760
chr11	75132269	75132386	E069	3930
chr11	75132392	75132854	E069	4053
chr11	75165422	75165671	E069	37083
chr11	75165685	75165860	E069	37346
chr11	75166055	75166155	E069	37716
chr11	75166160	75166231	E069	37821
chr11	75113049	75113240	E070	-15099
chr11	75113270	75113320	E070	-15019
chr11	75113363	75113766	E070	-14573
chr11	75113785	75114046	E070	-14293
chr11	75128647	75128718	E070	308
chr11	75128747	75128879	E070	408
chr11	75128911	75128962	E070	572
chr11	75129052	75129110	E070	713
chr11	75129143	75129312	E070	804
chr11	75129382	75129453	E070	1043
chr11	75131104	75131167	E070	2765
chr11	75131201	75131310	E070	2862
chr11	75131383	75131542	E070	3044
chr11	75131684	75131744	E070	3345
chr11	75131764	75131868	E070	3425
chr11	75131999	75132039	E070	3660
chr11	75132099	75132204	E070	3760
chr11	75132269	75132386	E070	3930
chr11	75132392	75132854	E070	4053
chr11	75137504	75137609	E070	9165
chr11	75137618	75137709	E070	9279
chr11	75137748	75137791	E070	9409
chr11	75138036	75138133	E070	9697
chr11	75138171	75138211	E070	9832
chr11	75144842	75145071	E070	16503
chr11	75172230	75172530	E070	43891
chr11	75172580	75172630	E070	44241
chr11	75095360	75096110	E071	-32229
chr11	75099306	75100628	E071	-27711
chr11	75107030	75107085	E071	-21254
chr11	75112235	75112498	E071	-15841
chr11	75112635	75112685	E071	-15654
chr11	75112748	75112823	E071	-15516
chr11	75113049	75113240	E071	-15099
chr11	75113270	75113320	E071	-15019
chr11	75131104	75131167	E071	2765
chr11	75131201	75131310	E071	2862
chr11	75131383	75131542	E071	3044
chr11	75131684	75131744	E071	3345
chr11	75131764	75131868	E071	3425
chr11	75131999	75132039	E071	3660
chr11	75132099	75132204	E071	3760
chr11	75132269	75132386	E071	3930
chr11	75132392	75132854	E071	4053
chr11	75095360	75096110	E072	-32229
chr11	75099306	75100628	E072	-27711
chr11	75131104	75131167	E072	2765
chr11	75131201	75131310	E072	2862
chr11	75131383	75131542	E072	3044
chr11	75131684	75131744	E072	3345
chr11	75131764	75131868	E072	3425
chr11	75131999	75132039	E072	3660
chr11	75132099	75132204	E072	3760
chr11	75132269	75132386	E072	3930
chr11	75132392	75132854	E072	4053
chr11	75165422	75165671	E072	37083
chr11	75165685	75165860	E072	37346
chr11	75112748	75112823	E073	-15516
chr11	75113049	75113240	E073	-15099
chr11	75113270	75113320	E073	-15019
chr11	75113363	75113766	E073	-14573
chr11	75131684	75131744	E073	3345
chr11	75131764	75131868	E073	3425
chr11	75131999	75132039	E073	3660
chr11	75132099	75132204	E073	3760
chr11	75165422	75165671	E073	37083
chr11	75165685	75165860	E073	37346
chr11	75166055	75166155	E073	37716
chr11	75166160	75166231	E073	37821
chr11	75166364	75166404	E073	38025
chr11	75095360	75096110	E074	-32229
chr11	75099306	75100628	E074	-27711
chr11	75106096	75106461	E074	-21878
chr11	75106783	75106837	E074	-21502
chr11	75106892	75106942	E074	-21397
chr11	75106965	75107015	E074	-21324
chr11	75131383	75131542	E074	3044
chr11	75131684	75131744	E074	3345
chr11	75131764	75131868	E074	3425
chr11	75131999	75132039	E074	3660
chr11	75132099	75132204	E074	3760
chr11	75132269	75132386	E074	3930
chr11	75132392	75132854	E074	4053
chr11	75165422	75165671	E074	37083
chr11	75165685	75165860	E074	37346
chr11	75166055	75166155	E074	37716
chr11	75166160	75166231	E074	37821
chr11	75166364	75166404	E074	38025
chr11	75112235	75112498	E081	-15841
chr11	75112635	75112685	E081	-15654
chr11	75112748	75112823	E081	-15516
chr11	75113049	75113240	E081	-15099
chr11	75113270	75113320	E081	-15019
chr11	75113363	75113766	E081	-14573
chr11	75113785	75114046	E081	-14293
chr11	75132099	75132204	E081	3760
chr11	75132269	75132386	E081	3930
chr11	75132392	75132854	E081	4053
chr11	75165422	75165671	E081	37083
chr11	75165685	75165860	E081	37346
chr11	75166055	75166155	E081	37716
chr11	75166160	75166231	E081	37821
chr11	75166364	75166404	E081	38025
chr11	75166555	75166666	E081	38216
chr11	75112635	75112685	E082	-15654
chr11	75112748	75112823	E082	-15516
chr11	75113049	75113240	E082	-15099
chr11	75113270	75113320	E082	-15019
chr11	75113363	75113766	E082	-14573
chr11	75113785	75114046	E082	-14293
chr11	75131383	75131542	E082	3044
chr11	75131684	75131744	E082	3345
chr11	75131764	75131868	E082	3425
chr11	75131999	75132039	E082	3660
chr11	75132099	75132204	E082	3760
chr11	75132269	75132386	E082	3930
chr11	75132392	75132854	E082	4053
chr11	75165422	75165671	E082	37083
chr11	75165685	75165860	E082	37346
chr11	75166055	75166155	E082	37716
chr11	75166160	75166231	E082	37821
chr11	75166364	75166404	E082	38025
chr11	75166555	75166666	E082	38216
chr11	75167096	75167166	E082	38757
chr11	75176699	75176879	E082	48360

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr11	75110142	75112009	E067	-16330
chr11	75138800	75139807	E067	10461
chr11	75110142	75112009	E068	-16330
chr11	75138800	75139807	E068	10461
chr11	75110142	75112009	E069	-16330
chr11	75138800	75139807	E069	10461
chr11	75110142	75112009	E070	-16330
chr11	75112067	75112122	E070	-16217
chr11	75110142	75112009	E071	-16330
chr11	75110142	75112009	E072	-16330
chr11	75138800	75139807	E072	10461
chr11	75110142	75112009	E073	-16330
chr11	75138800	75139807	E073	10461
chr11	75110142	75112009	E074	-16330
chr11	75110142	75112009	E082	-16330
chr11	75112067	75112122	E082	-16217
chr11	75138800	75139807	E082	10461

rs3018100

Genomic Coordinates

Gene: RPS3, ribosomal protein S3(plus strand)

Population Frequency

P-Value

eQTL of rs3018100 in Brain tissues (GTEx Analysis Release V7)

meQTL of rs3018100 in Fetal Brain

Genomic View

Chromatin Interaction

Enhancer Annotation (GRCh37.p13)

Promoter Annotation (GRCh37.p13)