rs630970

Homo sapiens
A>T
TENM4 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0368 (10995/29850,GnomAD)
A==0337 (9833/29118,TOPMED)
A==0386 (1935/5008,1000G)
A==0461 (1775/3854,ALSPAC)
A==0429 (1591/3708,TWINSUK)
chr11:79013169 (GRCh38.p7) (11q14.1)
ND
GWASdb2
1   publication(s)
See rs on genome
58 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.79013169A>T
GRCh37.p13 chr 11NC_000011.9:g.78724214A>T

Gene: TENM4, teneurin transmembrane protein 4(minus strand)

Molecule type Change Amino acid[Codon] SO Term
TENM4 transcriptNM_001098816.2:c.N/AIntron Variant
TENM4 transcript variant X1XM_017017525.1:c.N/AIntron Variant
TENM4 transcript variant X2XM_017017526.1:c.N/AIntron Variant
TENM4 transcript variant X3XM_011544933.2:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.098T=0.902
1000GenomesAmericanSub694A=0.480T=0.520
1000GenomesEast AsianSub1008A=0.574T=0.426
1000GenomesEuropeSub1006A=0.469T=0.531
1000GenomesGlobalStudy-wide5008A=0.386T=0.614
1000GenomesSouth AsianSub978A=0.430T=0.570
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.461T=0.539
The Genome Aggregation DatabaseAfricanSub8682A=0.144T=0.856
The Genome Aggregation DatabaseAmericanSub838A=0.440T=0.560
The Genome Aggregation DatabaseEast AsianSub1608A=0.623T=0.377
The Genome Aggregation DatabaseEuropeSub18420A=0.448T=0.551
The Genome Aggregation DatabaseGlobalStudy-wide29850A=0.368T=0.631
The Genome Aggregation DatabaseOtherSub302A=0.400T=0.600
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.337T=0.662
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.429T=0.571
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
rs6309700.000752nicotine smoking19268276

eQTL of rs630970 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 rs630970 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 )
chr117872878678729924E0674572
chr117873004278730114E0675828
chr117873012678730300E0675912
chr117873062478730684E0676410
chr117873085978730946E0676645
chr117873851778738699E06714303
chr117873872878738793E06714514
chr117873637278737245E06812158
chr117873728178737617E06813067
chr117875606778756783E06831853
chr117875761278757705E07033398
chr117875782178757871E07033607
chr117875816978758219E07033955
chr117875848878758821E07034274
chr117873004278730114E0715828
chr117873012678730300E0715912
chr117873062478730684E0716410
chr117873085978730946E0716645
chr117873114778731214E0716933
chr117873195478732071E0717740
chr117873344478733511E0719230
chr117877401478774151E07149800
chr117873004278730114E0725828
chr117873012678730300E0725912
chr117873062478730684E0726410
chr117873085978730946E0726645
chr117873114778731214E0726933
chr117877401478774151E07249800
chr117875681978757595E07332605
chr117873012678730300E0745912
chr117873062478730684E0746410
chr117873085978730946E0746645
chr117873195478732071E0747740
chr117867425778674452E081-49762
chr117873085978730946E0816645
chr117873114778731214E0816933
chr117875681978757595E08132605
chr117875761278757705E08133398
chr117875782178757871E08133607
chr117875816978758219E08133955
chr117875848878758821E08134274
chr117875919078759268E08134976
chr117868023278680291E082-43923
chr117868039878680565E082-43649
chr117870209078702140E082-22074
chr117870244178702481E082-21733
chr117870263678702684E082-21530
chr117874140978741459E08217195
chr117874147678741899E08217262
chr117874206278742188E08217848
chr117874224678742324E08218032
chr117874237678742469E08218162
chr117875606778756783E08231853
chr117875681978757595E08232605
chr117875761278757705E08233398
chr117875782178757871E08233607
chr117875816978758219E08233955
chr117875848878758821E08234274