rs6963296

Homo sapiens
T>C
CCDC129 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0431 (12898/29906,GnomAD)
T==0414 (12073/29118,TOPMED)
T==0451 (2259/5008,1000G)
T==0438 (1689/3854,ALSPAC)
T==0458 (1700/3708,TWINSUK)
chr7:31576040 (GRCh38.p7) (7p14.3)
ND
GWASdb2
1   publication(s)
See rs on genome
62 Enhancers around
1 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.31576040T>C
GRCh37.p13 chr 7NC_000007.13:g.31615654T>C

Gene: CCDC129, coiled-coil domain containing 129(plus strand)

Molecule type Change Amino acid[Codon] SO Term
CCDC129 transcript variant 1NM_001257967.1:c.N/AIntron Variant
CCDC129 transcript variant 3NM_001257968.1:c.N/AIntron Variant
CCDC129 transcript variant 2NM_194300.3:c.N/AIntron Variant
CCDC129 transcript variant 4NR_047565.1:n.N/AIntron Variant
CCDC129 transcript variant X1XM_011515213.1:c.N/AIntron Variant
CCDC129 transcript variant X2XM_017011871.1:c.N/AIntron Variant
CCDC129 transcript variant X3XM_017011872.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.302C=0.698
1000GenomesAmericanSub694T=0.380C=0.620
1000GenomesEast AsianSub1008T=0.562C=0.438
1000GenomesEuropeSub1006T=0.494C=0.506
1000GenomesGlobalStudy-wide5008T=0.451C=0.549
1000GenomesSouth AsianSub978T=0.550C=0.450
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.438C=0.562
The Genome Aggregation DatabaseAfricanSub8698T=0.327C=0.673
The Genome Aggregation DatabaseAmericanSub836T=0.340C=0.660
The Genome Aggregation DatabaseEast AsianSub1606T=0.573C=0.427
The Genome Aggregation DatabaseEuropeSub18464T=0.470C=0.529
The Genome Aggregation DatabaseGlobalStudy-wide29906T=0.431C=0.568
The Genome Aggregation DatabaseOtherSub302T=0.530C=0.470
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.414C=0.585
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.458C=0.542
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
rs69632960.000988nicotine smoking19268276

eQTL of rs6963296 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 rs6963296 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 )
chr73161890931619195E0703255
chr73162323831623538E0707584
chr73162357831623965E0707924
chr73164115031641224E07025496
chr73164329231643445E07027638
chr73164354331643613E07027889
chr73164367631643754E07028022
chr73159247431592573E081-23081
chr73159290231592963E081-22691
chr73159325231593693E081-21961
chr73159386631594140E081-21514
chr73160091631601002E081-14652
chr73160107431601170E081-14484
chr73160124631601302E081-14352
chr73160132831601378E081-14276
chr73160147831601640E081-14014
chr73160170031601861E081-13793
chr73160187331601996E081-13658
chr73160214431602333E081-13321
chr73160241131602624E081-13030
chr73160269431602744E081-12910
chr73160285131602903E081-12751
chr73160317931603418E081-12236
chr73160344631604817E081-10837
chr73160554231605602E081-10052
chr73160639831606525E081-9129
chr73160706331607113E081-8541
chr73162323831623538E0817584
chr73162357831623965E0817924
chr73162419431624308E0818540
chr73164075131640801E08125097
chr73164108531641135E08125431
chr73164115031641224E08125496
chr73164329231643445E08127638
chr73164354331643613E08127889
chr73164367631643754E08128022
chr73164438931644439E08128735
chr73159247431592573E082-23081
chr73159290231592963E082-22691
chr73159325231593693E082-21961
chr73160124631601302E082-14352
chr73160132831601378E082-14276
chr73160147831601640E082-14014
chr73160170031601861E082-13793
chr73160187331601996E082-13658
chr73160214431602333E082-13321
chr73160241131602624E082-13030
chr73160269431602744E082-12910
chr73160285131602903E082-12751
chr73160317931603418E082-12236
chr73160344631604817E082-10837
chr73160554231605602E082-10052
chr73162323831623538E0827584
chr73162357831623965E0827924
chr73162419431624308E0828540
chr73164075131640801E08225097
chr73164108531641135E08225431
chr73164115031641224E08225496
chr73164329231643445E08227638
chr73164354331643613E08227889
chr73164367631643754E08228022
chr73164438931644439E08228735



Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr73159481031594889E082-20765