Variant report

Variant	rs2000047
Chromosome Location	chr9:18464000-18464001
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1006022	0.83[CHB][hapmap]
rs10733354	0.93[ASN][1000 genomes]
rs10738511	0.93[ASN][1000 genomes]
rs10756963	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10756965	0.98[ASN][1000 genomes]
rs10756966	0.98[ASN][1000 genomes]
rs10756967	0.95[ASN][1000 genomes]
rs10810970	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1329720	1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1340043	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1341063	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1417037	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs16936745	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs16936779	1.00[CEU][hapmap];0.83[CHB][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1888067	1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.95[ASN][1000 genomes]
rs1888068	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs1888069	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs1999174	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34619899	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3898100	0.93[ASN][1000 genomes]
rs4246142	0.98[ASN][1000 genomes]
rs4246143	0.98[ASN][1000 genomes]
rs4590536	0.98[ASN][1000 genomes]
rs4961649	0.98[ASN][1000 genomes]
rs4961653	0.86[CHB][hapmap]
rs4961654	0.81[CHB][hapmap]
rs6475220	0.86[CHB][hapmap]
rs7864622	0.95[CEU][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7864727	0.91[CEU][hapmap];0.83[JPT][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7867766	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491807	chr9:18243672-19009770	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS 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	9 gene(s)	inside rSNPs	diseases
2	nsv525659	chr9:18288212-19009041	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1019127	chr9:18288271-18996288	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS 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	9 gene(s)	inside rSNPs	diseases
4	nsv892688	chr9:18385143-18551247	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1029449	chr9:18414752-18829127	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv540077	chr9:18414752-18829127	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats 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 miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv1030931	chr9:18414752-18903530	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS 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	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18460800-18464000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr9:18461000-18466200	Weak transcription	Hela-S3	cervix
3	chr9:18463000-18464200	Enhancers	NHEK	skin
4	chr9:18463400-18464200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr9:18463400-18464200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr9:18463400-18464200	Enhancers	NHDF-Ad	bronchial
7	chr9:18463400-18464400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr9:18463400-18464400	Enhancers	HMEC	breast
9	chr9:18463600-18464400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr9:18463800-18464200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr9:18463800-18464200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr9:18463800-18464400	Enhancers	HUVEC	blood vessel
13	chr9:18463800-18464400	Enhancers	NHLF	lung
14	chr9:18464000-18464400	Enhancers	Muscle Satellite Cultured Cells	--

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