rs2254137

Organism: Homo sapiens

Alleles: C>A

Gene : Feature

CREB1 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C==0437 (13077/29872,GnomAD)
C==0469 (13671/29118,TOPMED)
C==0470 (2355/5008,1000G)
C==0358 (1381/3854,ALSPAC)
C==0368 (1366/3708,TWINSUK)

Position: chr2:207579304 (GRCh38.p7) (2q33.3)

Phenotype: OD

Dataset:

GWASdb2

Publications: 3 publication(s)

Genomic View: See rs on genome

Enhancer: 64 Enhancers around

Promoter: 37 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 2	NC_000002.12:g.207579304C>A
GRCh37.p13 chr 2	NC_000002.11:g.208444028C>A
CREB1 RefSeqGene	NG_023299.1:g.54413C>A

Gene: CREB1, cAMP responsive element binding protein 1(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CREB1 transcript variant 1	NM_004379.4:c.	N/A	Intron Variant
CREB1 transcript variant 2	NM_134442.4:c.	N/A	Intron Variant
CREB1 transcript variant 3	NM_001320793.1:c.	N/A	Genic Downstream Transcript Variant
CREB1 transcript variant 4	NR_135473.1:n.	N/A	Intron Variant
CREB1 transcript variant X1	XM_011510645.1:c.	N/A	Intron Variant
CREB1 transcript variant X2	XM_011510646.2:c.	N/A	Intron Variant
CREB1 transcript variant X3	XM_011510647.2:c.	N/A	Intron Variant
CREB1 transcript variant X6	XM_011510648.2:c.	N/A	Intron Variant
CREB1 transcript variant X7	XM_011510649.2:c.	N/A	Intron Variant
CREB1 transcript variant X8	XM_011510650.2:c.	N/A	Intron Variant
CREB1 transcript variant X9	XM_011510651.2:c.	N/A	Intron Variant
CREB1 transcript variant X9	XM_017003399.1:c.	N/A	Intron Variant
CREB1 transcript variant X10	XM_017003400.1:c.	N/A	Intron Variant
CREB1 transcript variant X16	XM_017003401.1:c.	N/A	Intron Variant
CREB1 transcript variant X4	XR_001738634.1:n.	N/A	Intron Variant
CREB1 transcript variant X5	XR_001738635.1:n.	N/A	Intron Variant
CREB1 transcript variant X12	XR_001738636.1:n.	N/A	Intron Variant
CREB1 transcript variant X15	XR_001738637.1:n.	N/A	Intron Variant
CREB1 transcript variant X13	XR_241290.1:n.	N/A	Intron Variant
CREB1 transcript variant X14	XR_241292.1:n.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.635	A=0.365
1000Genomes	American	Sub	694	C=0.410	A=0.590
1000Genomes	East Asian	Sub	1008	C=0.369	A=0.631
1000Genomes	Europe	Sub	1006	C=0.350	A=0.650
1000Genomes	Global	Study-wide	5008	C=0.470	A=0.530
1000Genomes	South Asian	Sub	978	C=0.510	A=0.490
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.358	A=0.642
The Genome Aggregation Database	African	Sub	8698	C=0.615	A=0.385
The Genome Aggregation Database	American	Sub	834	C=0.440	A=0.560
The Genome Aggregation Database	East Asian	Sub	1618	C=0.381	A=0.619
The Genome Aggregation Database	Europe	Sub	18422	C=0.361	A=0.639
The Genome Aggregation Database	Global	Study-wide	29872	C=0.437	A=0.562
The Genome Aggregation Database	Other	Sub	300	C=0.300	A=0.700
Trans-Omics for Precision Medicine	Global	Study-wide	29118	C=0.469	A=0.530
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.368	A=0.632

PMID	Title	Author	Journal
23183491	Genome-wide association study identifies a potent locus associated with human opioid sensitivity.	Nishizawa D	Mol Psychiatry
23844928	Preliminary investigation of the influence of CREB1 gene polymorphisms on cognitive dysfunction in Chinese patients with major depression.	Guo J	Int J Neurosci
23537502	Evaluation of the role of MAPK1 and CREB1 polymorphisms on treatment resistance, response and remission in mood disorder patients.	Calati R	Prog Neuropsychopharmacol Biol Psychiatry

P-Value

SNP ID	p-value	Traits	Study
rs2254137	1.12E-05	Opioid sensitivity	23183491

eQTL of rs2254137 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 rs2254137 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 )
chr2	208444458	208444576	E067	430
chr2	208467556	208467656	E067	23528
chr2	208467955	208468204	E067	23927
chr2	208468345	208468451	E067	24317
chr2	208398281	208398617	E068	-45411
chr2	208399552	208399681	E068	-44347
chr2	208399783	208399841	E068	-44187
chr2	208414714	208415061	E068	-28967
chr2	208415089	208415165	E068	-28863
chr2	208415495	208415624	E068	-28404
chr2	208426103	208426153	E068	-17875
chr2	208426480	208426728	E068	-17300
chr2	208430631	208430681	E068	-13347
chr2	208430902	208431171	E068	-12857
chr2	208467955	208468204	E068	23927
chr2	208468345	208468451	E068	24317
chr2	208414013	208414120	E069	-29908
chr2	208414714	208415061	E069	-28967
chr2	208467556	208467656	E069	23528
chr2	208467955	208468204	E069	23927
chr2	208468345	208468451	E069	24317
chr2	208397918	208398013	E070	-46015
chr2	208398115	208398226	E070	-45802
chr2	208398281	208398617	E070	-45411
chr2	208399552	208399681	E071	-44347
chr2	208399783	208399841	E071	-44187
chr2	208399993	208400055	E071	-43973
chr2	208400611	208400670	E071	-43358
chr2	208413753	208413933	E071	-30095
chr2	208414013	208414120	E071	-29908
chr2	208414714	208415061	E071	-28967
chr2	208426480	208426728	E071	-17300
chr2	208430631	208430681	E071	-13347
chr2	208430902	208431171	E071	-12857
chr2	208468345	208468451	E071	24317
chr2	208477393	208477872	E071	33365
chr2	208430631	208430681	E072	-13347
chr2	208467556	208467656	E072	23528
chr2	208467955	208468204	E072	23927
chr2	208468345	208468451	E072	24317
chr2	208477393	208477872	E072	33365
chr2	208482460	208482572	E072	38432
chr2	208413753	208413933	E073	-30095
chr2	208414013	208414120	E073	-29908
chr2	208430631	208430681	E073	-13347
chr2	208486395	208486519	E073	42367
chr2	208487298	208487338	E073	43270
chr2	208491753	208492513	E073	47725
chr2	208398281	208398617	E074	-45411
chr2	208398800	208399060	E074	-44968
chr2	208426103	208426153	E074	-17875
chr2	208426480	208426728	E074	-17300
chr2	208444458	208444576	E074	430
chr2	208397344	208397394	E081	-46634
chr2	208397918	208398013	E081	-46015
chr2	208398115	208398226	E081	-45802
chr2	208398281	208398617	E081	-45411
chr2	208413753	208413933	E081	-30095
chr2	208414013	208414120	E081	-29908
chr2	208414714	208415061	E081	-28967
chr2	208398281	208398617	E082	-45411
chr2	208398800	208399060	E082	-44968
chr2	208413753	208413933	E082	-30095
chr2	208414013	208414120	E082	-29908

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr2	208396359	208396745	E067	-47283
chr2	208488612	208488838	E067	44584
chr2	208488906	208491332	E067	44878
chr2	208396359	208396745	E068	-47283
chr2	208488612	208488838	E068	44584
chr2	208488906	208491332	E068	44878
chr2	208491433	208491516	E068	47405
chr2	208491536	208491597	E068	47508
chr2	208491630	208491681	E068	47602
chr2	208396359	208396745	E069	-47283
chr2	208488612	208488838	E069	44584
chr2	208488906	208491332	E069	44878
chr2	208396359	208396745	E070	-47283
chr2	208488612	208488838	E070	44584
chr2	208488906	208491332	E070	44878
chr2	208396359	208396745	E071	-47283
chr2	208488612	208488838	E071	44584
chr2	208488906	208491332	E071	44878
chr2	208491433	208491516	E071	47405
chr2	208491536	208491597	E071	47508
chr2	208491630	208491681	E071	47602
chr2	208396359	208396745	E072	-47283
chr2	208488612	208488838	E072	44584
chr2	208488906	208491332	E072	44878
chr2	208396359	208396745	E073	-47283
chr2	208488612	208488838	E073	44584
chr2	208488906	208491332	E073	44878
chr2	208396359	208396745	E074	-47283
chr2	208488612	208488838	E074	44584
chr2	208488906	208491332	E074	44878
chr2	208396359	208396745	E081	-47283
chr2	208488906	208491332	E081	44878
chr2	208396359	208396745	E082	-47283
chr2	208488612	208488838	E082	44584
chr2	208488906	208491332	E082	44878
chr2	208491433	208491516	E082	47405
chr2	208491536	208491597	E082	47508