Variant report

Variant	rs10123481
Chromosome Location	chr9:18465657-18465658
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1006022	0.83[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap]
rs10217753	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs10453192	0.93[ASN][1000 genomes]
rs10756965	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10756966	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10756967	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10810972	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10810974	0.81[JPT][hapmap]
rs10963613	0.96[CEU][hapmap]
rs11793923	0.86[CEU][hapmap]
rs1329720	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1340042	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1341063	0.86[CHB][hapmap]
rs1417037	0.90[CEU][hapmap];0.87[CHB][hapmap]
rs1538999	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs1576383	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16936745	1.00[CEU][hapmap];0.87[CHB][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16936779	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs1888067	0.86[CHB][hapmap]
rs1888068	0.90[CEU][hapmap];0.82[CHB][hapmap]
rs1888069	0.89[CEU][hapmap];0.82[CHB][hapmap];0.81[YRI][hapmap]
rs2149875	0.83[CHB][hapmap]
rs2153414	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2153415	0.85[CEU][hapmap]
rs2153416	0.85[CEU][hapmap]
rs2277160	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs4961652	0.85[CEU][hapmap]
rs4961653	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs4961654	0.95[CHB][hapmap];0.82[JPT][hapmap]
rs6475220	0.85[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7019399	0.86[CEU][hapmap]
rs7036515	0.82[CEU][hapmap];0.83[CHB][hapmap]
rs7856703	0.85[CEU][hapmap]
rs7864622	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs7864727	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs7867766	0.85[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18461000-18466200	Weak transcription	Hela-S3	cervix
2	chr9:18464200-18469400	Weak transcription	NHDF-Ad	bronchial
3	chr9:18464200-18471600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr9:18464200-18474400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr9:18464400-18469000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr9:18464400-18473000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr9:18465400-18467200	Enhancers	HUVEC	blood vessel

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