rs6711080

Homo sapiens
C>T
ERBB4 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0445 (13283/29834,GnomAD)
T=0448 (13054/29118,TOPMED)
T=0362 (1813/5008,1000G)
T=0436 (1680/3854,ALSPAC)
T=0427 (1585/3708,TWINSUK)
chr2:212452605 (GRCh38.p7) (2q34)
ND
GWASdb2
1   publication(s)
See rs on genome
85 Enhancers around
5 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.212452605C>T
GRCh37.p13 chr 2NC_000002.11:g.213317329C>T
ERBB4 RefSeqGeneNG_011805.1:g.91024G>A

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

Molecule type Change Amino acid[Codon] SO Term
ERBB4 transcript variant JM-a/CVT-2NM_001042599.1:c.N/AIntron Variant
ERBB4 transcript variant JM-a/CVT-1NM_005235.2:c.N/AIntron Variant
ERBB4 transcript variant X7XM_005246376.2:c.N/AIntron Variant
ERBB4 transcript variant X8XM_005246377.2:c.N/AIntron Variant
ERBB4 transcript variant X5XM_006712364.2:c.N/AIntron Variant
ERBB4 transcript variant X1XM_017003577.1:c.N/AIntron Variant
ERBB4 transcript variant X2XM_017003578.1:c.N/AIntron Variant
ERBB4 transcript variant X3XM_017003579.1:c.N/AIntron Variant
ERBB4 transcript variant X4XM_017003580.1:c.N/AIntron Variant
ERBB4 transcript variant X6XM_017003581.1:c.N/AIntron Variant
ERBB4 transcript variant X9XM_017003582.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.498T=0.502
1000GenomesAmericanSub694C=0.630T=0.370
1000GenomesEast AsianSub1008C=0.903T=0.097
1000GenomesEuropeSub1006C=0.566T=0.434
1000GenomesGlobalStudy-wide5008C=0.638T=0.362
1000GenomesSouth AsianSub978C=0.640T=0.360
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.564T=0.436
The Genome Aggregation DatabaseAfricanSub8698C=0.537T=0.463
The Genome Aggregation DatabaseAmericanSub828C=0.660T=0.340
The Genome Aggregation DatabaseEast AsianSub1604C=0.897T=0.103
The Genome Aggregation DatabaseEuropeSub18402C=0.528T=0.471
The Genome Aggregation DatabaseGlobalStudy-wide29834C=0.554T=0.445
The Genome Aggregation DatabaseOtherSub302C=0.590T=0.410
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.551T=0.448
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.573T=0.427
PMID Title Author Journal
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs67110800.0009nicotine smoking19268276

eQTL of rs6711080 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 rs6711080 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 )
chr2213291798213291946E067-25383
chr2213291953213292045E067-25284
chr2213292528213292620E067-24709
chr2213293569213293683E067-23646
chr2213293783213294154E067-23175
chr2213350623213350673E06733294
chr2213353459213353531E06736130
chr2213291798213291946E068-25383
chr2213291953213292045E068-25284
chr2213292528213292620E068-24709
chr2213293569213293683E068-23646
chr2213293783213294154E068-23175
chr2213313576213313753E068-3576
chr2213345239213345521E06827910
chr2213346655213347031E06829326
chr2213349443213349523E06832114
chr2213349570213349634E06832241
chr2213349993213350204E06832664
chr2213350623213350673E06833294
chr2213352374213352424E06835045
chr2213353459213353531E06836130
chr2213365872213365930E06848543
chr2213286743213287036E069-30293
chr2213291798213291946E069-25383
chr2213291953213292045E069-25284
chr2213292528213292620E069-24709
chr2213316528213316998E069-331
chr2213346655213347031E06929326
chr2213353459213353531E06936130
chr2213291798213291946E070-25383
chr2213291953213292045E070-25284
chr2213292528213292620E070-24709
chr2213293569213293683E070-23646
chr2213293783213294154E070-23175
chr2213286743213287036E071-30293
chr2213291798213291946E071-25383
chr2213291953213292045E071-25284
chr2213292528213292620E071-24709
chr2213312697213312797E071-4532
chr2213312974213313024E071-4305
chr2213313099213313149E071-4180
chr2213313241213313291E071-4038
chr2213313576213313753E071-3576
chr2213316528213316998E071-331
chr2213345239213345521E07127910
chr2213346655213347031E07129326
chr2213349570213349634E07132241
chr2213349993213350204E07132664
chr2213356424213356778E07139095
chr2213365872213365930E07148543
chr2213287167213287207E072-30122
chr2213287248213287296E072-30033
chr2213291798213291946E072-25383
chr2213291953213292045E072-25284
chr2213293783213294154E072-23175
chr2213316528213316998E072-331
chr2213345239213345521E07227910
chr2213352374213352424E07235045
chr2213353459213353531E07236130
chr2213293569213293683E073-23646
chr2213293783213294154E073-23175
chr2213350623213350673E07333294
chr2213280156213280222E074-37107
chr2213286743213287036E074-30293
chr2213292528213292620E074-24709
chr2213293569213293683E074-23646
chr2213293783213294154E074-23175
chr2213316528213316998E074-331
chr2213345239213345521E07427910
chr2213349443213349523E07432114
chr2213349570213349634E07432241
chr2213349993213350204E07432664
chr2213350623213350673E07433294
chr2213353459213353531E07436130
chr2213291798213291946E081-25383
chr2213291953213292045E081-25284
chr2213341939213342684E08124610
chr2213342727213342916E08125398
chr2213345239213345521E08127910
chr2213346655213347031E08129326
chr2213291798213291946E082-25383
chr2213291953213292045E082-25284
chr2213293569213293683E082-23646
chr2213341939213342684E08224610
chr2213345239213345521E08227910










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2213279464213279901E067-37428
chr2213279464213279901E068-37428
chr2213279464213279901E069-37428
chr2213279464213279901E071-37428
chr2213279464213279901E074-37428