rs6435678

Organism: Homo sapiens

Alleles: G>C

Gene : Feature

ERBB4 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C=0139 (4183/29956,GnomAD)
C=0179 (5227/29118,TOPMED)
C=0138 (689/5008,1000G)
C=0117 (451/3854,ALSPAC)
C=0119 (443/3708,TWINSUK)

Position: chr2:211845743 (GRCh38.p7) (2q34)

Phenotype: ND

Dataset:

GWASdb2

Publications: 2 publication(s)

Genomic View: See rs on genome

Enhancer: 11 Enhancers around

Promoter: 7 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 2	NC_000002.12:g.211845743G>C
GRCh37.p13 chr 2	NC_000002.11:g.212710468G>C
ERBB4 RefSeqGene	NG_011805.1:g.697885C>G

Gene: ERBB4, erb-b2 receptor tyrosine kinase 4(minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ERBB4 transcript variant JM-a/CVT-2	NM_001042599.1:c.	N/A	Intron Variant
ERBB4 transcript variant JM-a/CVT-1	NM_005235.2:c.	N/A	Intron Variant
ERBB4 transcript variant X7	XM_005246376.2:c.	N/A	Intron Variant
ERBB4 transcript variant X8	XM_005246377.2:c.	N/A	Intron Variant
ERBB4 transcript variant X5	XM_006712364.2:c.	N/A	Intron Variant
ERBB4 transcript variant X1	XM_017003577.1:c.	N/A	Intron Variant
ERBB4 transcript variant X2	XM_017003578.1:c.	N/A	Intron Variant
ERBB4 transcript variant X3	XM_017003579.1:c.	N/A	Intron Variant
ERBB4 transcript variant X4	XM_017003580.1:c.	N/A	Intron Variant
ERBB4 transcript variant X6	XM_017003581.1:c.	N/A	Intron Variant
ERBB4 transcript variant X9	XM_017003582.1:c.	N/A	Genic Upstream Transcript Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.733	C=0.267
1000Genomes	American	Sub	694	G=0.930	C=0.070
1000Genomes	East Asian	Sub	1008	G=0.959	C=0.041
1000Genomes	Europe	Sub	1006	G=0.873	C=0.127
1000Genomes	Global	Study-wide	5008	G=0.862	C=0.138
1000Genomes	South Asian	Sub	978	G=0.880	C=0.120
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.883	C=0.117
The Genome Aggregation Database	African	Sub	8716	G=0.755	C=0.245
The Genome Aggregation Database	American	Sub	838	G=0.910	C=0.090
The Genome Aggregation Database	East Asian	Sub	1610	G=0.945	C=0.055
The Genome Aggregation Database	Europe	Sub	18490	G=0.900	C=0.099
The Genome Aggregation Database	Global	Study-wide	29956	G=0.860	C=0.139
The Genome Aggregation Database	Other	Sub	302	G=0.870	C=0.130
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.820	C=0.179
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.881	C=0.119

PMID	Title	Author	Journal
27296613	Multiethnic genome-wide association study identifies ethnic-specific associations with body mass index in Hispanics and African Americans.	Salinas YD	BMC Genet
19268276	Genome-wide association study of smoking initiation and current smoking.	Vink JM	Am J Hum Genet

P-Value

SNP ID	p-value	Traits	Study
rs6435678	0.000306	nicotine smoking	19268276

eQTL of rs6435678 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 rs6435678 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	212664381	212664461	E067	-46007
chr2	212664504	212665033	E067	-45435
chr2	212664381	212664461	E068	-46007
chr2	212664504	212665033	E069	-45435
chr2	212667434	212667785	E070	-42683
chr2	212710548	212710618	E070	80
chr2	212710793	212710899	E070	325
chr2	212664381	212664461	E071	-46007
chr2	212664504	212665033	E071	-45435
chr2	212664504	212665033	E072	-45435
chr2	212664504	212665033	E074	-45435

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr2	212665119	212665213	E068	-45255
chr2	212665240	212665344	E068	-45124
chr2	212665119	212665213	E071	-45255
chr2	212665240	212665344	E071	-45124
chr2	212665119	212665213	E072	-45255
chr2	212665240	212665344	E072	-45124
chr2	212665404	212665474	E072	-44994