Variant report

Variant	rs313457
Chromosome Location	chr10:4717347-4717348
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs167511	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2123352	1.00[CHB][hapmap];0.84[JPT][hapmap];1.00[ASN][1000 genomes]
rs2647337	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs313450	1.00[CHB][hapmap];0.96[ASN][1000 genomes]
rs313452	1.00[CHB][hapmap];0.84[JPT][hapmap];0.96[ASN][1000 genomes]
rs313454	0.96[ASN][1000 genomes]
rs313490	0.84[ASN][1000 genomes]
rs313491	0.86[YRI][hapmap];0.96[ASN][1000 genomes]
rs313494	0.96[ASN][1000 genomes]
rs386948	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	esv1798456	chr10:4689138-4731081	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv1817443	chr10:4689138-4731081	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv1831014	chr10:4689138-4731081	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv1838419	chr10:4689138-4731081	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv1805926	chr10:4689842-4720626	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	esv1809203	chr10:4689842-4720626	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	esv1840346	chr10:4689842-4720626	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	esv1842933	chr10:4689842-4720626	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	esv1848476	chr10:4689842-4720626	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4714000-4717800	Weak transcription	NHDF-Ad	bronchial
2	chr10:4714000-4719600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr10:4714000-4719800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr10:4714000-4720800	Weak transcription	Right Atrium	heart
5	chr10:4714200-4720800	Weak transcription	Left Ventricle	heart
6	chr10:4714600-4719800	Weak transcription	HSMM	muscle
7	chr10:4714600-4719800	Weak transcription	HSMMtube	muscle
8	chr10:4714800-4719600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr10:4714800-4719600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr10:4714800-4719600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr10:4715200-4720000	Weak transcription	Adipose Nuclei	Adipose
12	chr10:4715400-4718800	Enhancers	HMEC	breast
13	chr10:4715600-4718600	Enhancers	NHEK	skin
14	chr10:4715600-4721000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr10:4716000-4718600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr10:4716200-4717800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr10:4716200-4719000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr10:4716200-4719400	Weak transcription	Osteobl	bone
19	chr10:4716200-4719600	Weak transcription	NH-A	brain
20	chr10:4716200-4720000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr10:4716400-4726600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr10:4717000-4718200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr10:4717000-4718400	Weak transcription	A549	lung
24	chr10:4717200-4717600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr10:4717200-4718200	Transcr. at gene 5' and 3'	HUVEC	blood vessel

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