rs7282535

Homo sapiens
A>T
RUNX1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0118 (3547/29944,GnomAD)
T=0130 (3787/29118,TOPMED)
T=0077 (385/5008,1000G)
T=0123 (475/3854,ALSPAC)
T=0124 (459/3708,TWINSUK)
chr21:35004924 (GRCh38.p7) (21q22.12)
ND
GWASdb2
1   publication(s)
See rs on genome
14 Enhancers around
4 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 21NC_000021.9:g.35004924A>T
GRCh37.p13 chr 21NC_000021.8:g.36377221A>T
RUNX1 RefSeqGene LRG_482

Gene: RUNX1, runt related transcription factor 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
RUNX1 transcript variant 1NM_001754.4:c.N/AIntron Variant
RUNX1 transcript variant 2NM_001001890.2:c.N/AGenic Upstream Transcript Variant
RUNX1 transcript variant 3NM_001122607.1:c.N/AGenic Upstream Transcript Variant
RUNX1 transcript variant X5XM_005261069.4:c.N/AIntron Variant
RUNX1 transcript variant X1XM_011529766.2:c.N/AIntron Variant
RUNX1 transcript variant X3XM_011529767.2:c.N/AIntron Variant
RUNX1 transcript variant X6XM_011529768.2:c.N/AIntron Variant
RUNX1 transcript variant X8XM_011529770.2:c.N/AIntron Variant
RUNX1 transcript variant X2XM_005261068.3:c.N/AGenic Upstream Transcript Variant
RUNX1 transcript variant X4XM_017028487.1:c.N/AGenic Upstream Transcript Variant
RUNX1 transcript variant X7XR_937576.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.877T=0.123
1000GenomesAmericanSub694A=0.900T=0.100
1000GenomesEast AsianSub1008A=0.999T=0.001
1000GenomesEuropeSub1006A=0.881T=0.119
1000GenomesGlobalStudy-wide5008A=0.923T=0.077
1000GenomesSouth AsianSub978A=0.960T=0.040
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.877T=0.123
The Genome Aggregation DatabaseAfricanSub8702A=0.857T=0.143
The Genome Aggregation DatabaseAmericanSub838A=0.940T=0.060
The Genome Aggregation DatabaseEast AsianSub1620A=0.998T=0.002
The Genome Aggregation DatabaseEuropeSub18482A=0.880T=0.119
The Genome Aggregation DatabaseGlobalStudy-wide29944A=0.881T=0.118
The Genome Aggregation DatabaseOtherSub302A=0.840T=0.160
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.869T=0.130
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.876T=0.124
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
rs72825350.000168nicotine smoking19268276

eQTL of rs7282535 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 rs7282535 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 )
chr213635253536352620E068-24601
chr213635266136352752E068-24469
chr213635276736352835E068-24386
chr213635289136353077E068-24144
chr213642562336426088E07148402
chr213642613236426204E07148911
chr213642626836426320E07149047
chr213642562336426088E07448402
chr213642613236426204E07448911
chr213642626836426320E07449047
chr213642659236426642E07449371
chr213634175236342065E081-35156
chr213634214636342524E081-34697
chr213634253436342648E081-34573




Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr213641915636422031E06841935
chr213641915636422031E06941935
chr213641915636422031E07141935
chr213641915636422031E07441935