Variant report

Variant	rs9489188
Chromosome Location	chr6:117766264-117766265
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr6:117766001-117766273	GM12878	blood:	n/a	chr6:117766114-117766123 chr6:117766112-117766125 chr6:117766114-117766124 chr6:117766113-117766124

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:117764099..117766879-chr6:117995038..117997863,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000221434	TF binding region
ENSG00000153989	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10080784	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10484302	1.00[JPT][hapmap]
rs12332810	1.00[JPT][hapmap]
rs13205893	1.00[JPT][hapmap]
rs13206903	1.00[JPT][hapmap]
rs17079193	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17079201	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17079205	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17165	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17635403	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6932793	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6940229	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72957541	0.82[AFR][1000 genomes]
rs72959681	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7762063	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs9320602	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9320603	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9481716	0.95[AFR][1000 genomes]
rs9481717	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9481718	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9489184	0.86[AFR][1000 genomes]
rs9489187	0.95[AFR][1000 genomes]
rs9489189	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489191	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9489192	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9489194	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9489195	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9489197	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9489198	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9986462	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532050	chr6:117528154-118203005	ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv966655	chr6:117758375-117766294	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:117762000-117767800	Enhancers	Osteobl	bone
2	chr6:117763000-117772200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr6:117763400-117767200	Weak transcription	HSMMtube	muscle
4	chr6:117763400-117767800	Enhancers	Muscle Satellite Cultured Cells	--
5	chr6:117763400-117767800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:117763400-117767800	Weak transcription	NH-A	brain
7	chr6:117764200-117768200	Weak transcription	NHLF	lung
8	chr6:117764400-117767400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:117764400-117767400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:117764400-117767800	Weak transcription	A549	lung
11	chr6:117765200-117766400	Enhancers	HMEC	breast
12	chr6:117765200-117767400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr6:117765400-117766400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:117765800-117766400	Enhancers	NHDF-Ad	bronchial
15	chr6:117766000-117767000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr6:117766000-117767800	Weak transcription	HSMM	muscle
17	chr6:117766200-117766400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:117766200-117767200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr6:117766200-117768000	Weak transcription	NHEK	skin
20	chr6:117766200-117768600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:117766200-117768600	Weak transcription	Hela-S3	cervix

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