Variant report

Variant	rs12497420
Chromosome Location	chr3:179997028-179997029
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10513771	0.85[ASN][1000 genomes]
rs12486206	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12491089	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12638851	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12638877	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13322790	0.83[ASN][1000 genomes]
rs1357904	0.82[ASN][1000 genomes]
rs1464845	0.85[ASN][1000 genomes]
rs1525276	0.83[ASN][1000 genomes]
rs1589858	0.85[ASN][1000 genomes]
rs16831219	0.82[ASN][1000 genomes]
rs16831288	0.88[ASN][1000 genomes]
rs16831406	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2091273	0.87[ASN][1000 genomes]
rs2337368	0.83[ASN][1000 genomes]
rs2878954	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3906013	0.89[ASN][1000 genomes]
rs3906014	0.88[ASN][1000 genomes]
rs3914867	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3914868	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4108253	0.80[ASN][1000 genomes]
rs4241377	0.92[ASN][1000 genomes]
rs4854903	0.85[ASN][1000 genomes]
rs4854964	0.82[ASN][1000 genomes]
rs4854966	0.85[ASN][1000 genomes]
rs4854970	0.87[ASN][1000 genomes]
rs56234136	0.85[ASN][1000 genomes]
rs57131411	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62292283	0.85[ASN][1000 genomes]
rs62292284	0.85[ASN][1000 genomes]
rs62292290	0.85[ASN][1000 genomes]
rs62292291	0.85[ASN][1000 genomes]
rs62292292	0.88[ASN][1000 genomes]
rs62292326	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7622125	0.89[ASN][1000 genomes]
rs7622865	0.83[ASN][1000 genomes]
rs7639931	0.92[ASN][1000 genomes]
rs7643438	0.93[ASN][1000 genomes]
rs7644566	0.90[ASN][1000 genomes]
rs7652322	0.82[ASN][1000 genomes]
rs7652473	0.90[ASN][1000 genomes]
rs939440	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs939442	0.90[ASN][1000 genomes]
rs9683358	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9819178	0.89[ASN][1000 genomes]
rs9840477	0.80[ASN][1000 genomes]
rs9840775	0.80[ASN][1000 genomes]
rs9860526	0.80[ASN][1000 genomes]
rs9867767	0.85[ASN][1000 genomes]
rs9869517	0.83[ASN][1000 genomes]
rs9869873	0.92[ASN][1000 genomes]
rs9871936	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012271	chr3:179806875-180234871	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv878040	chr3:179823887-180128288	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv997388	chr3:179899279-180172349	Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv536817	chr3:179899279-180172349	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv878041	chr3:179983857-180097855	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:179993000-179998600	Weak transcription	NHDF-Ad	bronchial
2	chr3:179993000-180002000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr3:179993600-179998400	Weak transcription	HMEC	breast
4	chr3:179994200-179998600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr3:179994200-179999000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:179995600-179997800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr3:179995800-179997400	Flanking Active TSS	GM12878-XiMat	blood
8	chr3:179996800-179998400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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