rs672949

Homo sapiens
C>T
COL4A1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0312 (9356/29930,GnomAD)
T=0301 (8779/29118,TOPMED)
T=0269 (1347/5008,1000G)
T=0337 (1297/3854,ALSPAC)
T=0340 (1262/3708,TWINSUK)
chr13:110227207 (GRCh38.p7) (13q34)
ND
GWASdb2
1   publication(s)
See rs on genome
34 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 13NC_000013.11:g.110227207C>T
GRCh37.p13 chr 13NC_000013.10:g.110879554C>T
COL4A1 RefSeqGeneNG_011544.2:g.84943G>A

Gene: COL4A1, collagen type IV alpha 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
COL4A1 transcript variant 2NM_001303110.1:c.N/AIntron Variant
COL4A1 transcript variant 1NM_001845.5:c.N/AIntron Variant
COL4A1 transcript variant X1XM_011521048.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.672T=0.328
1000GenomesAmericanSub694C=0.790T=0.210
1000GenomesEast AsianSub1008C=0.863T=0.137
1000GenomesEuropeSub1006C=0.674T=0.326
1000GenomesGlobalStudy-wide5008C=0.731T=0.269
1000GenomesSouth AsianSub978C=0.690T=0.310
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.663T=0.337
The Genome Aggregation DatabaseAfricanSub8710C=0.672T=0.328
The Genome Aggregation DatabaseAmericanSub834C=0.780T=0.220
The Genome Aggregation DatabaseEast AsianSub1620C=0.875T=0.125
The Genome Aggregation DatabaseEuropeSub18464C=0.676T=0.323
The Genome Aggregation DatabaseGlobalStudy-wide29930C=0.687T=0.312
The Genome Aggregation DatabaseOtherSub302C=0.550T=0.450
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.698T=0.301
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.660T=0.340
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
rs6729490.000211nicotine smoking19268276

eQTL of rs672949 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 rs672949 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 )
chr13110867934110871618E067-7936
chr13110867934110871618E068-7936
chr13110919305110919870E06839751
chr13110867934110871618E069-7936
chr13110873718110874887E069-4667
chr13110836126110836196E070-43358
chr13110836199110836821E070-42733
chr13110851517110851777E070-27777
chr13110851903110852160E070-27394
chr13110919305110919870E07039751
chr13110867934110871618E071-7936
chr13110873718110874887E071-4667
chr13110919305110919870E07139751
chr13110920938110921048E07141384
chr13110851903110852160E072-27394
chr13110867934110871618E072-7936
chr13110917719110919165E07238165
chr13110867117110867311E073-12243
chr13110867440110867539E073-12015
chr13110867645110867815E073-11739
chr13110867934110871618E073-7936
chr13110884575110884783E0735021
chr13110914136110914261E07334582
chr13110917719110919165E07338165
chr13110867934110871618E074-7936
chr13110898839110899300E08119285
chr13110899453110900927E08119899
chr13110900961110901066E08121407
chr13110919305110919870E08139751
chr13110919929110920043E08140375
chr13110898839110899300E08219285
chr13110917209110917648E08237655
chr13110917719110919165E08238165
chr13110920413110920473E08240859