Variant report

Variant	rs12403119
Chromosome Location	chr1:223682400-223682401
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:223680980..223683088-chr1:223683400..223685832,2	MCF-7	breast:
2	chr1:223673872..223675904-chr1:223680727..223683330,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12136518	0.87[ASN][1000 genomes]
rs12408545	0.93[ASN][1000 genomes]
rs12409225	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12411081	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12732440	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12735811	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12752130	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12760595	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs34285879	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34766468	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35219153	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs36046682	0.84[ASN][1000 genomes]
rs3935463	0.87[ASN][1000 genomes]
rs4353087	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4402119	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4606305	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55939627	0.83[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs56170942	0.85[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs56296308	0.85[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs59248273	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs61366469	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6604718	0.89[ASN][1000 genomes]
rs6604721	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6660728	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6667089	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6676169	0.86[ASN][1000 genomes]
rs6676669	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs6684384	0.83[ASN][1000 genomes]
rs72745975	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs72745981	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7517145	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7549968	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832670	chr1:223561771-223683381	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv520420	chr1:223682051-223693162	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223679000-223685200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:223681000-223682800	Enhancers	Fetal Brain Male	brain
3	chr1:223682400-223683000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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