rs7958924

Organism: Homo sapiens

Alleles: A>C

Gene : Feature

RIMBP2 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C=0369 (11007/29770,GnomAD)
C=0330 (9629/29118,TOPMED)
C=0323 (1617/5008,1000G)
C=0415 (1598/3854,ALSPAC)
C=0404 (1499/3708,TWINSUK)

Position: chr12:130677635 (GRCh38.p7) (12q24.33)

Phenotype: CD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 132 Enhancers around

Promoter: 46 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 12	NC_000012.12:g.130677635A>C
GRCh37.p13 chr 12	NC_000012.11:g.131162180A>C

Gene: RIMBP2, RIMS binding protein 2(minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
RIMBP2 transcript	NM_015347.4:c.	N/A	Genic Upstream Transcript Variant
RIMBP2 transcript variant X3	XM_011538104.2:c.	N/A	Intron Variant
RIMBP2 transcript variant X8	XM_017019107.1:c.	N/A	Intron Variant
RIMBP2 transcript variant X11	XM_017019110.1:c.	N/A	Intron Variant
RIMBP2 transcript variant X12	XM_017019111.1:c.	N/A	Intron Variant
RIMBP2 transcript variant X1	XM_011538102.1:c.	N/A	Genic Upstream Transcript Variant
RIMBP2 transcript variant X2	XM_011538103.2:c.	N/A	Genic Upstream Transcript Variant
RIMBP2 transcript variant X5	XM_011538105.2:c.	N/A	Genic Upstream Transcript Variant
RIMBP2 transcript variant X6	XM_011538106.2:c.	N/A	Genic Upstream Transcript Variant
RIMBP2 transcript variant X13	XM_011538107.2:c.	N/A	Genic Upstream Transcript Variant
RIMBP2 transcript variant X14	XM_011538108.2:c.	N/A	Genic Upstream Transcript Variant
RIMBP2 transcript variant X4	XM_017019105.1:c.	N/A	Genic Upstream Transcript Variant
RIMBP2 transcript variant X7	XM_017019106.1:c.	N/A	Genic Upstream Transcript Variant
RIMBP2 transcript variant X9	XM_017019108.1:c.	N/A	Genic Upstream Transcript Variant
RIMBP2 transcript variant X10	XM_017019109.1:c.	N/A	Genic Upstream Transcript Variant
RIMBP2 transcript variant X15	XM_017019112.1:c.	N/A	Genic Upstream Transcript Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.735	C=0.265
1000Genomes	American	Sub	694	A=0.630	C=0.370
1000Genomes	East Asian	Sub	1008	A=0.718	C=0.282
1000Genomes	Europe	Sub	1006	A=0.605	C=0.395
1000Genomes	Global	Study-wide	5008	A=0.677	C=0.323
1000Genomes	South Asian	Sub	978	A=0.660	C=0.340
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.585	C=0.415
The Genome Aggregation Database	African	Sub	8660	A=0.729	C=0.271
The Genome Aggregation Database	American	Sub	828	A=0.690	C=0.310
The Genome Aggregation Database	East Asian	Sub	1606	A=0.699	C=0.301
The Genome Aggregation Database	Europe	Sub	18374	A=0.576	C=0.423
The Genome Aggregation Database	Global	Study-wide	29770	A=0.630	C=0.369
The Genome Aggregation Database	Other	Sub	302	A=0.550	C=0.450
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.669	C=0.330
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.596	C=0.404

PMID	Title	Author	Journal
23958962	Genome-wide association study of cocaine dependence and related traits: FAM53B identified as a risk gene.	Gelernter J	Mol Psychiatry

P-Value

SNP ID	p-value	Traits	Study
rs7958924	1.4E-05	cocaine dependence	23958962

eQTL of rs7958924 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 rs7958924 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 )
chr12	131134599	131135306	E067	-26874
chr12	131135544	131135640	E067	-26540
chr12	131135712	131135904	E067	-26276
chr12	131135941	131135991	E067	-26189
chr12	131186144	131186212	E067	23964
chr12	131186573	131186644	E067	24393
chr12	131117864	131117972	E069	-44208
chr12	131155991	131156041	E069	-6139
chr12	131156163	131156345	E069	-5835
chr12	131119032	131119101	E070	-43079
chr12	131119156	131119196	E070	-42984
chr12	131119410	131119450	E070	-42730
chr12	131119770	131119905	E070	-42275
chr12	131119932	131119982	E070	-42198
chr12	131134599	131135306	E070	-26874
chr12	131135544	131135640	E070	-26540
chr12	131135712	131135904	E070	-26276
chr12	131135941	131135991	E070	-26189
chr12	131151807	131151963	E070	-10217
chr12	131155749	131155831	E070	-6349
chr12	131155991	131156041	E070	-6139
chr12	131156163	131156345	E070	-5835
chr12	131156418	131157537	E070	-4643
chr12	131157686	131158037	E070	-4143
chr12	131172179	131172256	E070	9999
chr12	131176666	131176716	E070	14486
chr12	131190184	131190348	E070	28004
chr12	131190403	131190488	E070	28223
chr12	131190588	131190642	E070	28408
chr12	131117864	131117972	E071	-44208
chr12	131134599	131135306	E071	-26874
chr12	131135712	131135904	E071	-26276
chr12	131135941	131135991	E071	-26189
chr12	131134599	131135306	E072	-26874
chr12	131142769	131142981	E072	-19199
chr12	131143123	131143225	E072	-18955
chr12	131143352	131143474	E072	-18706
chr12	131156418	131157537	E072	-4643
chr12	131157686	131158037	E072	-4143
chr12	131134599	131135306	E073	-26874
chr12	131135544	131135640	E073	-26540
chr12	131135712	131135904	E073	-26276
chr12	131135941	131135991	E073	-26189
chr12	131189674	131189786	E073	27494
chr12	131189852	131189927	E073	27672
chr12	131189991	131190088	E073	27811
chr12	131190184	131190348	E073	28004
chr12	131197676	131197726	E073	35496
chr12	131117864	131117972	E074	-44208
chr12	131118183	131118903	E074	-43277
chr12	131119032	131119101	E081	-43079
chr12	131119156	131119196	E081	-42984
chr12	131119410	131119450	E081	-42730
chr12	131119770	131119905	E081	-42275
chr12	131132296	131132448	E081	-29732
chr12	131132609	131132667	E081	-29513
chr12	131132671	131132796	E081	-29384
chr12	131134599	131135306	E081	-26874
chr12	131135544	131135640	E081	-26540
chr12	131135712	131135904	E081	-26276
chr12	131135941	131135991	E081	-26189
chr12	131136156	131136637	E081	-25543
chr12	131136676	131136947	E081	-25233
chr12	131137331	131137381	E081	-24799
chr12	131137930	131137980	E081	-24200
chr12	131139676	131139816	E081	-22364
chr12	131140177	131140227	E081	-21953
chr12	131140332	131140385	E081	-21795
chr12	131140924	131141065	E081	-21115
chr12	131141071	131141275	E081	-20905
chr12	131141509	131141559	E081	-20621
chr12	131142505	131142560	E081	-19620
chr12	131142601	131142661	E081	-19519
chr12	131142664	131142714	E081	-19466
chr12	131142769	131142981	E081	-19199
chr12	131143123	131143225	E081	-18955
chr12	131143352	131143474	E081	-18706
chr12	131148737	131148867	E081	-13313
chr12	131151807	131151963	E081	-10217
chr12	131152067	131152204	E081	-9976
chr12	131152308	131152358	E081	-9822
chr12	131153462	131153516	E081	-8664
chr12	131153735	131153785	E081	-8395
chr12	131155585	131155635	E081	-6545
chr12	131155749	131155831	E081	-6349
chr12	131155991	131156041	E081	-6139
chr12	131156163	131156345	E081	-5835
chr12	131156418	131157537	E081	-4643
chr12	131157686	131158037	E081	-4143
chr12	131165022	131165076	E081	2842
chr12	131165095	131165178	E081	2915
chr12	131165346	131165396	E081	3166
chr12	131165622	131165723	E081	3442
chr12	131169978	131170054	E081	7798
chr12	131170120	131170228	E081	7940
chr12	131170282	131170322	E081	8102
chr12	131170355	131170415	E081	8175
chr12	131170455	131170505	E081	8275
chr12	131172179	131172256	E081	9999
chr12	131172363	131172573	E081	10183
chr12	131173429	131173535	E081	11249
chr12	131186144	131186212	E081	23964
chr12	131187988	131188053	E081	25808
chr12	131188124	131188250	E081	25944
chr12	131188284	131188358	E081	26104
chr12	131189852	131189927	E081	27672
chr12	131189991	131190088	E081	27811
chr12	131190184	131190348	E081	28004
chr12	131190403	131190488	E081	28223
chr12	131190588	131190642	E081	28408
chr12	131191223	131191284	E081	29043
chr12	131191361	131191424	E081	29181
chr12	131197367	131197466	E081	35187
chr12	131197676	131197726	E081	35496
chr12	131125756	131125806	E082	-36374
chr12	131134599	131135306	E082	-26874
chr12	131135544	131135640	E082	-26540
chr12	131135712	131135904	E082	-26276
chr12	131135941	131135991	E082	-26189
chr12	131136156	131136637	E082	-25543
chr12	131151807	131151963	E082	-10217
chr12	131155991	131156041	E082	-6139
chr12	131156163	131156345	E082	-5835
chr12	131156418	131157537	E082	-4643
chr12	131157686	131158037	E082	-4143
chr12	131170120	131170228	E082	7940
chr12	131170282	131170322	E082	8102
chr12	131170355	131170415	E082	8175
chr12	131170455	131170505	E082	8275
chr12	131172179	131172256	E082	9999
chr12	131172363	131172573	E082	10183
chr12	131174335	131174394	E082	12155

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr12	131197967	131198945	E067	35787
chr12	131198946	131199027	E067	36766
chr12	131199304	131199731	E067	37124
chr12	131199745	131199771	E067	37565
chr12	131199780	131199845	E067	37600
chr12	131199860	131200341	E067	37680
chr12	131200350	131200461	E067	38170
chr12	131200476	131201798	E067	38296
chr12	131197967	131198945	E068	35787
chr12	131198946	131199027	E068	36766
chr12	131199304	131199731	E068	37124
chr12	131199745	131199771	E068	37565
chr12	131199780	131199845	E068	37600
chr12	131199860	131200341	E068	37680
chr12	131200350	131200461	E068	38170
chr12	131200476	131201798	E068	38296
chr12	131197967	131198945	E069	35787
chr12	131198946	131199027	E069	36766
chr12	131200350	131200461	E069	38170
chr12	131200476	131201798	E069	38296
chr12	131197967	131198945	E071	35787
chr12	131197967	131198945	E072	35787
chr12	131198946	131199027	E072	36766
chr12	131199304	131199731	E072	37124
chr12	131199745	131199771	E072	37565
chr12	131199780	131199845	E072	37600
chr12	131199860	131200341	E072	37680
chr12	131200350	131200461	E072	38170
chr12	131200476	131201798	E072	38296
chr12	131197967	131198945	E073	35787
chr12	131198946	131199027	E073	36766
chr12	131199304	131199731	E073	37124
chr12	131199745	131199771	E073	37565
chr12	131199780	131199845	E073	37600
chr12	131199860	131200341	E073	37680
chr12	131200350	131200461	E073	38170
chr12	131200476	131201798	E073	38296
chr12	131199860	131200341	E074	37680
chr12	131200350	131200461	E074	38170
chr12	131200476	131201798	E074	38296
chr12	131200350	131200461	E081	38170
chr12	131200476	131201798	E081	38296
chr12	131198946	131199027	E082	36766
chr12	131199860	131200341	E082	37680
chr12	131200350	131200461	E082	38170
chr12	131200476	131201798	E082	38296