Variant report

Variant	rs2621293
Chromosome Location	chr3:158970212-158970213
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1020470	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs1077544	1.00[CHB][hapmap]
rs13314849	0.90[ASN][1000 genomes]
rs1449007	0.97[ASN][1000 genomes]
rs1449008	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1449009	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1449022	0.84[ASN][1000 genomes]
rs1449026	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1449027	0.83[YRI][hapmap]
rs1449028	1.00[CHB][hapmap];0.87[JPT][hapmap];0.97[ASN][1000 genomes]
rs1900860	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs2004299	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs2044704	1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs2122145	0.90[ASN][1000 genomes]
rs2244434	0.90[ASN][1000 genomes]
rs2595233	1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs2595235	0.99[ASN][1000 genomes]
rs2595236	0.83[YRI][hapmap]
rs2595237	1.00[CHB][hapmap];0.96[JPT][hapmap];0.99[ASN][1000 genomes]
rs2595240	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2595241	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2595249	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2595251	0.95[CHB][hapmap];0.96[JPT][hapmap]
rs2595261	1.00[CHB][hapmap]
rs2621281	0.97[ASN][1000 genomes]
rs2621283	0.95[ASN][1000 genomes]
rs2621285	1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs2621286	1.00[CHB][hapmap];0.96[JPT][hapmap]
rs2621294	0.83[YRI][hapmap]
rs2621295	0.83[YRI][hapmap]
rs2621296	0.99[ASN][1000 genomes]
rs2621303	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2621304	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs2621305	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2621307	0.95[ASN][1000 genomes]
rs2621308	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2621309	0.97[ASN][1000 genomes]
rs2922407	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs3903320	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7624604	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[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	nsv530059	chr3:158332590-159147549	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv470971	chr3:158590928-159158217	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	esv3426016	chr3:158676623-158979242	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv998949	chr3:158774806-159394550	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1012602	chr3:158800182-159031618	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:158968600-158972000	Enhancers	Osteobl	bone
2	chr3:158968800-158970600	Enhancers	NH-A	brain
3	chr3:158969000-158971600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr3:158969600-158970600	Enhancers	HUVEC	blood vessel
5	chr3:158969600-158970800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:158970200-158970400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr3:158970200-158970400	Enhancers	Muscle Satellite Cultured Cells	--

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