Variant report

Variant	rs4680494
Chromosome Location	chr3:158905650-158905651
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs12635142	0.95[JPT][hapmap]
rs1375407	0.81[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1449027	0.91[CHB][hapmap]
rs1562672	0.90[CHB][hapmap]
rs17795566	0.91[CHB][hapmap]
rs1823310	0.88[ASN][1000 genomes]
rs1900861	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1975601	0.90[CHB][hapmap]
rs2365478	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2595232	0.91[CHB][hapmap]
rs2595236	0.91[CHB][hapmap]
rs2595242	0.90[CHB][hapmap]
rs2595243	0.90[CHB][hapmap]
rs2595244	0.90[CHB][hapmap]
rs2595245	0.86[CHB][hapmap]
rs2595246	0.90[CHB][hapmap]
rs2595247	0.82[CHB][hapmap]
rs2595248	0.86[CHB][hapmap]
rs2595258	0.95[JPT][hapmap]
rs2595263	0.83[ASN][1000 genomes]
rs2621277	0.95[JPT][hapmap]
rs2621284	0.91[CHB][hapmap]
rs2621292	0.95[JPT][hapmap]
rs2621294	0.91[CHB][hapmap]
rs2621295	0.91[CHB][hapmap]
rs2621297	0.90[CHB][hapmap]
rs2621299	0.91[CHB][hapmap]
rs2621300	0.91[CHB][hapmap]
rs2621306	0.90[CHB][hapmap]
rs2621310	0.86[CHB][hapmap]
rs2621312	0.86[CHB][hapmap]
rs2621313	0.86[CHB][hapmap]
rs2621314	0.86[CHB][hapmap]
rs4020070	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4296631	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4501157	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4645169	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4680495	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6768725	0.88[ASN][1000 genomes]
rs6788475	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6789496	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6805303	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap]
rs7634829	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs9848481	1.00[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap]
rs9879667	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv491927	chr3:158692653-158952780	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	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
6	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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:158899600-158907400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:158903200-158906600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr3:158903200-158909200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr3:158905000-158905800	Enhancers	Stomach Mucosa	stomach
5	chr3:158905000-158907400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:158905200-158905800	Active TSS	Liver	Liver
7	chr3:158905200-158905800	Enhancers	Pancreas	Pancrea
8	chr3:158905600-158907600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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