Variant report

Variant	rs12002126
Chromosome Location	chr9:18460620-18460621
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]
rs10511658	1.00[AMR][1000 genomes]
rs11999281	1.00[AMR][1000 genomes]
rs12000949	1.00[AMR][1000 genomes]
rs12000950	1.00[AMR][1000 genomes]
rs12001004	1.00[AMR][1000 genomes]
rs12003118	1.00[AMR][1000 genomes]
rs12003267	0.84[YRI][hapmap];1.00[AMR][1000 genomes]
rs12003900	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12005242	1.00[AMR][1000 genomes]
rs16936711	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16936729	0.86[AFR][1000 genomes]
rs16936775	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs16936780	0.85[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16936815	1.00[AMR][1000 genomes]
rs1856705	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1888064	1.00[AMR][1000 genomes]
rs57153018	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58068158	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58526635	1.00[AMR][1000 genomes]
rs60199560	1.00[AMR][1000 genomes]
rs60288112	1.00[AMR][1000 genomes]
rs60561389	1.00[AMR][1000 genomes]
rs6475217	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7019792	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs7040544	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73417101	1.00[AMR][1000 genomes]
rs73418922	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73418924	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73418940	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73421011	1.00[AMR][1000 genomes]
rs73421013	1.00[AMR][1000 genomes]
rs73421023	1.00[AMR][1000 genomes]
rs73421030	1.00[AMR][1000 genomes]
rs73421031	1.00[AMR][1000 genomes]
rs73421035	1.00[AMR][1000 genomes]
rs870019	1.00[AMR][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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18457200-18461600	Enhancers	HMEC	breast
2	chr9:18457800-18463800	Weak transcription	NHLF	lung
3	chr9:18458000-18463800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr9:18459200-18460800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr9:18459200-18460800	Enhancers	Osteobl	bone
6	chr9:18459800-18461600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr9:18460000-18460800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr9:18460400-18460800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr9:18460400-18461000	Enhancers	HUVEC	blood vessel
10	chr9:18460600-18460800	Enhancers	Muscle Satellite Cultured Cells	--
11	chr9:18460600-18460800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr9:18460600-18460800	Enhancers	HSMM	muscle
13	chr9:18460600-18461000	Enhancers	Hela-S3	cervix
14	chr9:18460600-18461000	Enhancers	HSMMtube	muscle
15	chr9:18460600-18461000	Enhancers	NHDF-Ad	bronchial
16	chr9:18460600-18461800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr9:18460600-18462000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr9:18460600-18462000	Enhancers	NHEK	skin

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