rs2903517

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

C11orf49 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0106 (3195/29980,GnomAD)
A=0096 (2813/29118,TOPMED)
A=0097 (488/5008,1000G)
A=0175 (673/3854,ALSPAC)
A=0179 (662/3708,TWINSUK)

Position: chr11:46945257 (GRCh38.p7) (11p11.2)

Phenotype: ND

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 328 Enhancers around

Promoter: 27 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 11	NC_000011.10:g.46945257G>A
GRCh37.p13 chr 11	NC_000011.9:g.46966808G>A

Gene: C11orf49, chromosome 11 open reading frame 49(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
C11orf49 transcript variant 1	NM_001003676.2:c.	N/A	Intron Variant
C11orf49 transcript variant 2	NM_001003677.2:c.	N/A	Intron Variant
C11orf49 transcript variant 4	NM_001003678.2:c.	N/A	Intron Variant
C11orf49 transcript variant 5	NM_001278222.1:c.	N/A	Intron Variant
C11orf49 transcript variant 3	NM_024113.4:c.	N/A	Intron Variant
C11orf49 transcript variant 6	NR_103471.1:n.	N/A	Intron Variant
C11orf49 transcript variant 7	NR_103472.1:n.	N/A	Intron Variant
C11orf49 transcript variant X2	XM_006718315.1:c.	N/A	Intron Variant
C11orf49 transcript variant X1	XM_011520364.2:c.	N/A	Intron Variant
C11orf49 transcript variant X4	XM_011520365.2:c.	N/A	Intron Variant
C11orf49 transcript variant X3	XM_017018276.1:c.	N/A	Intron Variant
C11orf49 transcript variant X5	XM_017018277.1:c.	N/A	Intron Variant
C11orf49 transcript variant X6	XM_017018278.1:c.	N/A	Intron Variant
C11orf49 transcript variant X7	XM_017018279.1:c.	N/A	Intron Variant
C11orf49 transcript variant X8	XM_017018280.1:c.	N/A	Intron Variant
C11orf49 transcript variant X9	XM_017018281.1:c.	N/A	Intron Variant
C11orf49 transcript variant X10	XM_017018282.1:c.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.989	A=0.011
1000Genomes	American	Sub	694	G=0.900	A=0.100
1000Genomes	East Asian	Sub	1008	G=0.981	A=0.019
1000Genomes	Europe	Sub	1006	G=0.825	A=0.175
1000Genomes	Global	Study-wide	5008	G=0.903	A=0.097
1000Genomes	South Asian	Sub	978	G=0.790	A=0.210
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.825	A=0.175
The Genome Aggregation Database	African	Sub	8732	G=0.966	A=0.034
The Genome Aggregation Database	American	Sub	836	G=0.900	A=0.100
The Genome Aggregation Database	East Asian	Sub	1622	G=0.967	A=0.033
The Genome Aggregation Database	Europe	Sub	18488	G=0.853	A=0.146
The Genome Aggregation Database	Global	Study-wide	29980	G=0.893	A=0.106
The Genome Aggregation Database	Other	Sub	302	G=0.810	A=0.190
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.903	A=0.096
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.821	A=0.179

PMID	Title	Author	Journal
20158304	A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.	Lind PA	Twin Res Hum Genet

P-Value

SNP ID	p-value	Traits	Study
rs2903517	2.17E-05	alcohol and nictotine co-dependence	20158304

eQTL of rs2903517 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 rs2903517 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	46917272	46917363	E067	-49445
chr11	46917424	46917693	E067	-49115
chr11	46917783	46918188	E067	-48620
chr11	46922838	46922995	E067	-43813
chr11	46923156	46923242	E067	-43566
chr11	46924368	46924478	E067	-42330
chr11	46924554	46924616	E067	-42192
chr11	46925088	46925155	E067	-41653
chr11	46925163	46925242	E067	-41566
chr11	46925374	46925783	E067	-41025
chr11	46926199	46926308	E067	-40500
chr11	46926563	46926656	E067	-40152
chr11	46926717	46926777	E067	-40031
chr11	46926941	46927035	E067	-39773
chr11	46927471	46927559	E067	-39249
chr11	46927566	46927680	E067	-39128
chr11	46928085	46929050	E067	-37758
chr11	46930175	46930350	E067	-36458
chr11	46930445	46930495	E067	-36313
chr11	46930504	46930558	E067	-36250
chr11	46931405	46931648	E067	-35160
chr11	46933616	46935601	E067	-31207
chr11	46935777	46936432	E067	-30376
chr11	46941042	46941114	E067	-25694
chr11	46941165	46941842	E067	-24966
chr11	46990764	46990814	E067	23956
chr11	46991100	46991329	E067	24292
chr11	46997753	46997793	E067	30945
chr11	46997952	46998237	E067	31144
chr11	46998256	46998428	E067	31448
chr11	46998482	46999489	E067	31674
chr11	46999511	46999832	E067	32703
chr11	46999837	47000069	E067	33029
chr11	47000112	47000308	E067	33304
chr11	47000314	47000387	E067	33506
chr11	46917272	46917363	E068	-49445
chr11	46917424	46917693	E068	-49115
chr11	46917783	46918188	E068	-48620
chr11	46918328	46918418	E068	-48390
chr11	46918446	46918545	E068	-48263
chr11	46922838	46922995	E068	-43813
chr11	46923156	46923242	E068	-43566
chr11	46924368	46924478	E068	-42330
chr11	46924554	46924616	E068	-42192
chr11	46925088	46925155	E068	-41653
chr11	46925163	46925242	E068	-41566
chr11	46925374	46925783	E068	-41025
chr11	46926199	46926308	E068	-40500
chr11	46926563	46926656	E068	-40152
chr11	46926717	46926777	E068	-40031
chr11	46926941	46927035	E068	-39773
chr11	46927471	46927559	E068	-39249
chr11	46927566	46927680	E068	-39128
chr11	46928085	46929050	E068	-37758
chr11	46929253	46929307	E068	-37501
chr11	46930175	46930350	E068	-36458
chr11	46930445	46930495	E068	-36313
chr11	46930504	46930558	E068	-36250
chr11	46931405	46931648	E068	-35160
chr11	46933616	46935601	E068	-31207
chr11	46935777	46936432	E068	-30376
chr11	46936473	46936562	E068	-30246
chr11	46936578	46936819	E068	-29989
chr11	46936841	46936892	E068	-29916
chr11	46936931	46937062	E068	-29746
chr11	46937104	46937223	E068	-29585
chr11	46937340	46937415	E068	-29393
chr11	46937574	46937659	E068	-29149
chr11	46941042	46941114	E068	-25694
chr11	46941165	46941842	E068	-24966
chr11	46941952	46942013	E068	-24795
chr11	46942095	46942917	E068	-23891
chr11	46960160	46960210	E068	-6598
chr11	46969646	46970550	E068	2838
chr11	46994522	46994828	E068	27714
chr11	46997424	46997491	E068	30616
chr11	46997753	46997793	E068	30945
chr11	46997952	46998237	E068	31144
chr11	46998256	46998428	E068	31448
chr11	46998482	46999489	E068	31674
chr11	46999511	46999832	E068	32703
chr11	46999837	47000069	E068	33029
chr11	47000112	47000308	E068	33304
chr11	47000314	47000387	E068	33506
chr11	47009773	47010095	E068	42965
chr11	46917272	46917363	E069	-49445
chr11	46917424	46917693	E069	-49115
chr11	46917783	46918188	E069	-48620
chr11	46918328	46918418	E069	-48390
chr11	46922838	46922995	E069	-43813
chr11	46923156	46923242	E069	-43566
chr11	46924368	46924478	E069	-42330
chr11	46924554	46924616	E069	-42192
chr11	46925088	46925155	E069	-41653
chr11	46925163	46925242	E069	-41566
chr11	46925374	46925783	E069	-41025
chr11	46926563	46926656	E069	-40152
chr11	46926717	46926777	E069	-40031
chr11	46926941	46927035	E069	-39773
chr11	46927471	46927559	E069	-39249
chr11	46927566	46927680	E069	-39128
chr11	46928085	46929050	E069	-37758
chr11	46930445	46930495	E069	-36313
chr11	46930504	46930558	E069	-36250
chr11	46931405	46931648	E069	-35160
chr11	46932775	46932849	E069	-33959
chr11	46932922	46933096	E069	-33712
chr11	46933485	46933535	E069	-33273
chr11	46933616	46935601	E069	-31207
chr11	46935777	46936432	E069	-30376
chr11	46936473	46936562	E069	-30246
chr11	46936578	46936819	E069	-29989
chr11	46936841	46936892	E069	-29916
chr11	46936931	46937062	E069	-29746
chr11	46941042	46941114	E069	-25694
chr11	46941165	46941842	E069	-24966
chr11	46973518	46973832	E069	6710
chr11	46997170	46997220	E069	30362
chr11	46997424	46997491	E069	30616
chr11	46997753	46997793	E069	30945
chr11	46997952	46998237	E069	31144
chr11	46998256	46998428	E069	31448
chr11	46998482	46999489	E069	31674
chr11	46999511	46999832	E069	32703
chr11	46999837	47000069	E069	33029
chr11	47000112	47000308	E069	33304
chr11	47000314	47000387	E069	33506
chr11	46917272	46917363	E070	-49445
chr11	46917424	46917693	E070	-49115
chr11	46917783	46918188	E070	-48620
chr11	46924368	46924478	E070	-42330
chr11	46924554	46924616	E070	-42192
chr11	46925088	46925155	E070	-41653
chr11	46925163	46925242	E070	-41566
chr11	46925374	46925783	E070	-41025
chr11	46935777	46936432	E070	-30376
chr11	46941042	46941114	E070	-25694
chr11	46998256	46998428	E070	31448
chr11	46998482	46999489	E070	31674
chr11	46999511	46999832	E070	32703
chr11	46999837	47000069	E070	33029
chr11	46917272	46917363	E071	-49445
chr11	46917424	46917693	E071	-49115
chr11	46917783	46918188	E071	-48620
chr11	46918328	46918418	E071	-48390
chr11	46918446	46918545	E071	-48263
chr11	46918633	46918869	E071	-47939
chr11	46922838	46922995	E071	-43813
chr11	46923156	46923242	E071	-43566
chr11	46924368	46924478	E071	-42330
chr11	46924554	46924616	E071	-42192
chr11	46925088	46925155	E071	-41653
chr11	46925163	46925242	E071	-41566
chr11	46925374	46925783	E071	-41025
chr11	46926199	46926308	E071	-40500
chr11	46926563	46926656	E071	-40152
chr11	46926717	46926777	E071	-40031
chr11	46926941	46927035	E071	-39773
chr11	46927471	46927559	E071	-39249
chr11	46927566	46927680	E071	-39128
chr11	46930175	46930350	E071	-36458
chr11	46930445	46930495	E071	-36313
chr11	46930504	46930558	E071	-36250
chr11	46931405	46931648	E071	-35160
chr11	46933616	46935601	E071	-31207
chr11	46935777	46936432	E071	-30376
chr11	46936473	46936562	E071	-30246
chr11	46936578	46936819	E071	-29989
chr11	46936841	46936892	E071	-29916
chr11	46936931	46937062	E071	-29746
chr11	46937104	46937223	E071	-29585
chr11	46937340	46937415	E071	-29393
chr11	46941042	46941114	E071	-25694
chr11	46941165	46941842	E071	-24966
chr11	46968816	46969018	E071	2008
chr11	46969046	46969100	E071	2238
chr11	46973518	46973832	E071	6710
chr11	46990764	46990814	E071	23956
chr11	46991100	46991329	E071	24292
chr11	46997170	46997220	E071	30362
chr11	46997424	46997491	E071	30616
chr11	46997753	46997793	E071	30945
chr11	46997952	46998237	E071	31144
chr11	46998256	46998428	E071	31448
chr11	46999511	46999832	E071	32703
chr11	46999837	47000069	E071	33029
chr11	47000112	47000308	E071	33304
chr11	47000314	47000387	E071	33506
chr11	47008736	47009094	E071	41928
chr11	46917272	46917363	E072	-49445
chr11	46917424	46917693	E072	-49115
chr11	46917783	46918188	E072	-48620
chr11	46918328	46918418	E072	-48390
chr11	46918446	46918545	E072	-48263
chr11	46922066	46922198	E072	-44610
chr11	46922838	46922995	E072	-43813
chr11	46923156	46923242	E072	-43566
chr11	46924368	46924478	E072	-42330
chr11	46924554	46924616	E072	-42192
chr11	46925088	46925155	E072	-41653
chr11	46925163	46925242	E072	-41566
chr11	46925374	46925783	E072	-41025
chr11	46926563	46926656	E072	-40152
chr11	46926717	46926777	E072	-40031
chr11	46926941	46927035	E072	-39773
chr11	46927566	46927680	E072	-39128
chr11	46928085	46929050	E072	-37758
chr11	46931405	46931648	E072	-35160
chr11	46933616	46935601	E072	-31207
chr11	46935777	46936432	E072	-30376
chr11	46936473	46936562	E072	-30246
chr11	46936578	46936819	E072	-29989
chr11	46936841	46936892	E072	-29916
chr11	46936931	46937062	E072	-29746
chr11	46941042	46941114	E072	-25694
chr11	46941165	46941842	E072	-24966
chr11	46990764	46990814	E072	23956
chr11	46991100	46991329	E072	24292
chr11	46997424	46997491	E072	30616
chr11	46997753	46997793	E072	30945
chr11	46997952	46998237	E072	31144
chr11	46998256	46998428	E072	31448
chr11	46999511	46999832	E072	32703
chr11	46999837	47000069	E072	33029
chr11	47000112	47000308	E072	33304
chr11	47000314	47000387	E072	33506
chr11	46917272	46917363	E073	-49445
chr11	46917424	46917693	E073	-49115
chr11	46917783	46918188	E073	-48620
chr11	46918328	46918418	E073	-48390
chr11	46918446	46918545	E073	-48263
chr11	46918633	46918869	E073	-47939
chr11	46924368	46924478	E073	-42330
chr11	46924554	46924616	E073	-42192
chr11	46925088	46925155	E073	-41653
chr11	46925163	46925242	E073	-41566
chr11	46925374	46925783	E073	-41025
chr11	46926199	46926308	E073	-40500
chr11	46926563	46926656	E073	-40152
chr11	46926717	46926777	E073	-40031
chr11	46926941	46927035	E073	-39773
chr11	46927471	46927559	E073	-39249
chr11	46927566	46927680	E073	-39128
chr11	46928085	46929050	E073	-37758
chr11	46930175	46930350	E073	-36458
chr11	46930445	46930495	E073	-36313
chr11	46930504	46930558	E073	-36250
chr11	46931405	46931648	E073	-35160
chr11	46933616	46935601	E073	-31207
chr11	46935777	46936432	E073	-30376
chr11	46936473	46936562	E073	-30246
chr11	46936578	46936819	E073	-29989
chr11	46936841	46936892	E073	-29916
chr11	46936931	46937062	E073	-29746
chr11	46937104	46937223	E073	-29585
chr11	46937340	46937415	E073	-29393
chr11	46937574	46937659	E073	-29149
chr11	46937777	46937835	E073	-28973
chr11	46941042	46941114	E073	-25694
chr11	46941165	46941842	E073	-24966
chr11	46997753	46997793	E073	30945
chr11	46997952	46998237	E073	31144
chr11	46998256	46998428	E073	31448
chr11	46998482	46999489	E073	31674
chr11	46999511	46999832	E073	32703
chr11	46917272	46917363	E074	-49445
chr11	46917424	46917693	E074	-49115
chr11	46917783	46918188	E074	-48620
chr11	46918328	46918418	E074	-48390
chr11	46918446	46918545	E074	-48263
chr11	46922838	46922995	E074	-43813
chr11	46923156	46923242	E074	-43566
chr11	46924368	46924478	E074	-42330
chr11	46924554	46924616	E074	-42192
chr11	46925088	46925155	E074	-41653
chr11	46925163	46925242	E074	-41566
chr11	46925374	46925783	E074	-41025
chr11	46926199	46926308	E074	-40500
chr11	46926563	46926656	E074	-40152
chr11	46926717	46926777	E074	-40031
chr11	46926941	46927035	E074	-39773
chr11	46927471	46927559	E074	-39249
chr11	46927566	46927680	E074	-39128
chr11	46928085	46929050	E074	-37758
chr11	46929253	46929307	E074	-37501
chr11	46931405	46931648	E074	-35160
chr11	46933616	46935601	E074	-31207
chr11	46935777	46936432	E074	-30376
chr11	46936473	46936562	E074	-30246
chr11	46936578	46936819	E074	-29989
chr11	46936841	46936892	E074	-29916
chr11	46936931	46937062	E074	-29746
chr11	46941042	46941114	E074	-25694
chr11	46941165	46941842	E074	-24966
chr11	46968816	46969018	E074	2008
chr11	46969046	46969100	E074	2238
chr11	46969169	46969639	E074	2361
chr11	46973518	46973832	E074	6710
chr11	46988417	46988533	E074	21609
chr11	46990764	46990814	E074	23956
chr11	46991100	46991329	E074	24292
chr11	46993753	46993837	E074	26945
chr11	46994023	46994246	E074	27215
chr11	46994522	46994828	E074	27714
chr11	46997753	46997793	E074	30945
chr11	46997952	46998237	E074	31144
chr11	46998256	46998428	E074	31448
chr11	46998482	46999489	E074	31674
chr11	46999511	46999832	E074	32703
chr11	46999837	47000069	E074	33029
chr11	46917424	46917693	E081	-49115
chr11	46917783	46918188	E081	-48620
chr11	46925374	46925783	E081	-41025
chr11	46933616	46935601	E081	-31207
chr11	46937574	46937659	E081	-29149
chr11	46937777	46937835	E081	-28973
chr11	46941042	46941114	E081	-25694
chr11	46941165	46941842	E081	-24966
chr11	46998256	46998428	E081	31448
chr11	46917272	46917363	E082	-49445
chr11	46917424	46917693	E082	-49115
chr11	46917783	46918188	E082	-48620
chr11	46935777	46936432	E082	-30376
chr11	46936473	46936562	E082	-30246
chr11	46936578	46936819	E082	-29989
chr11	46936841	46936892	E082	-29916
chr11	46936931	46937062	E082	-29746
chr11	46941042	46941114	E082	-25694

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr11	46937859	46941030	E067	-25778
chr11	46957698	46959093	E067	-7715
chr11	46937859	46941030	E068	-25778
chr11	46957698	46959093	E068	-7715
chr11	46959174	46959252	E068	-7556
chr11	47003077	47003255	E068	36269
chr11	47003357	47003496	E068	36549
chr11	46937859	46941030	E069	-25778
chr11	46957698	46959093	E069	-7715
chr11	46959174	46959252	E069	-7556
chr11	46957698	46959093	E070	-7715
chr11	46959174	46959252	E070	-7556
chr11	46937859	46941030	E071	-25778
chr11	46957698	46959093	E071	-7715
chr11	46959174	46959252	E071	-7556
chr11	46937859	46941030	E072	-25778
chr11	46957698	46959093	E072	-7715
chr11	46959174	46959252	E072	-7556
chr11	46937859	46941030	E073	-25778
chr11	46957698	46959093	E073	-7715
chr11	46959174	46959252	E073	-7556
chr11	46937859	46941030	E074	-25778
chr11	46957698	46959093	E074	-7715
chr11	46957698	46959093	E081	-7715
chr11	46937859	46941030	E082	-25778
chr11	46957698	46959093	E082	-7715
chr11	46959174	46959252	E082	-7556