Variant report

Variant	rs4729860
Chromosome Location	chr7:102625567-102625568
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10228495	0.80[CHB][hapmap];0.81[JPT][hapmap]
rs10241865	0.95[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs10242028	0.95[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs10250490	0.84[ASN][1000 genomes]
rs10271157	0.82[ASN][1000 genomes]
rs10271184	0.95[CHB][hapmap]
rs10273725	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs10279449	0.95[CHB][hapmap];0.85[JPT][hapmap]
rs10808120	0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1100046	0.87[ASN][1000 genomes]
rs11514917	0.95[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11768949	0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs11972261	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11976237	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11978799	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs11981980	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs12537977	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs12666317	0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs12668434	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs13221585	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13222980	0.86[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs13229214	0.80[ASN][1000 genomes]
rs13232194	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs13233521	0.95[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs13242493	0.82[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs1541519	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs1608651	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17136090	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs1829957	0.82[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2190673	0.81[ASN][1000 genomes]
rs2222539	0.88[ASN][1000 genomes]
rs2228686	0.90[ASN][1000 genomes]
rs2298854	0.83[ASN][1000 genomes]
rs2411059	0.88[ASN][1000 genomes]
rs28856331	0.85[ASN][1000 genomes]
rs41501847	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs4296965	0.88[ASN][1000 genomes]
rs4609128	0.91[ASN][1000 genomes]
rs4620204	0.95[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs4729866	0.80[CEU][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4729873	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6465876	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs6465878	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs6465880	0.82[ASN][1000 genomes]
rs6945997	0.90[ASN][1000 genomes]
rs6946773	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs6947403	0.86[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs6953980	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs6960428	0.95[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs6978630	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7458786	0.90[ASN][1000 genomes]
rs7778418	0.81[JPT][hapmap]
rs7779145	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs7780405	0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7780981	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs7782908	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs7785272	0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7789252	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7794668	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs7800548	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs7807055	0.93[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs847646	0.85[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs847647	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs847648	0.91[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs847649	0.95[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs847656	0.86[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs847658	0.86[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs869332	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs952879	0.84[ASN][1000 genomes]
rs955992	0.98[ASN][1000 genomes]
rs9718453	0.95[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.91[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	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	esv2752138	chr7:102358320-102787135	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv5881	chr7:102610488-102655699	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102613000-102625600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:102613200-102631200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr7:102618400-102630000	Weak transcription	Right Atrium	heart
4	chr7:102619400-102625600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:102620200-102625600	Weak transcription	Aorta	Aorta
6	chr7:102623800-102636600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:102625000-102626800	Strong transcription	K562	blood
8	chr7:102625200-102626400	Enhancers	NH-A	brain
9	chr7:102625400-102625800	Enhancers	Gastric	stomach
10	chr7:102625400-102626000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr7:102625400-102626400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:102625400-102626400	Enhancers	NHDF-Ad	bronchial
13	chr7:102625400-102626400	Enhancers	NHEK	skin
14	chr7:102625400-102626600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:102625400-102626600	Enhancers	HMEC	breast
16	chr7:102625400-102626600	Enhancers	Osteobl	bone
17	chr7:102625400-102627000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr7:102625400-102627000	Enhancers	Ovary	ovary

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