Variant report

Variant	rs2397989
Chromosome Location	chr10:4846626-4846627
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:4844826..4847362-chr10:4849459..4852602,3	K562	blood:
2	chr10:3213531..3215935-chr10:4845767..4848019,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000107959	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2397987	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2961575	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2961594	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[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	nsv894787	chr10:4385379-4857717	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv894792	chr10:4832920-5498724	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4841800-4851200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr10:4844000-4848800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr10:4844000-4850400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr10:4845000-4847600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr10:4845000-4848200	Enhancers	HUVEC	blood vessel
6	chr10:4845400-4846800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr10:4845600-4846800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr10:4845600-4847600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr10:4845600-4849800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr10:4845600-4850000	Weak transcription	NHEK	skin
11	chr10:4845800-4846800	Enhancers	HSMMtube	muscle
12	chr10:4845800-4847600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr10:4845800-4847800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr10:4845800-4847800	Enhancers	Osteobl	bone
15	chr10:4845800-4849800	Weak transcription	HMEC	breast
16	chr10:4845800-4851200	Weak transcription	HepG2	liver
17	chr10:4846000-4854200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr10:4846200-4847000	Enhancers	HSMM	muscle
19	chr10:4846200-4847400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr10:4846200-4847600	Enhancers	NHLF	lung
21	chr10:4846400-4847200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr10:4846400-4847800	Enhancers	NHDF-Ad	bronchial
23	chr10:4846600-4847400	Enhancers	NH-A	brain

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