Variant report

Variant	rs808258
Chromosome Location	chr10:116469394-116469395
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11196869	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.93[LWK][hapmap];0.81[MEX][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11196871	0.85[CEU][hapmap]
rs11814078	1.00[CHD][hapmap]
rs217190	0.85[CEU][hapmap];0.88[AMR][1000 genomes]
rs217191	0.85[CEU][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs61869076	0.87[AMR][1000 genomes]
rs7091958	0.85[CEU][hapmap]
rs808249	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs808250	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs808321	1.00[ASN][1000 genomes]
rs808331	1.00[ASN][1000 genomes]
rs808336	1.00[ASN][1000 genomes]
rs808338	1.00[ASN][1000 genomes]
rs808349	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037308	chr10:116141946-116519765	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv540780	chr10:116141946-116519765	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv949138	chr10:116311531-116874477	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1038050	chr10:116315109-116895719	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv533027	chr10:116344641-116856352	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	esv3435429	chr10:116394152-117006347	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv1042170	chr10:116455043-116504871	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv1046888	chr10:116455043-116505640	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv1038822	chr10:116455647-116497204	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116465000-116471200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr10:116465200-116472600	Weak transcription	Brain Hippocampus Middle	brain
3	chr10:116465400-116470600	Enhancers	Hela-S3	cervix
4	chr10:116465400-116472200	Weak transcription	Brain Anterior Caudate	brain
5	chr10:116466400-116473600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr10:116466600-116469600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr10:116466800-116473400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr10:116467800-116469800	Enhancers	Fetal Heart	heart
9	chr10:116468000-116470000	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr10:116468000-116470000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr10:116468000-116470000	Enhancers	NHDF-Ad	bronchial
12	chr10:116468000-116470200	Enhancers	HMEC	breast
13	chr10:116468000-116471200	Weak transcription	Right Atrium	heart
14	chr10:116468200-116470200	Enhancers	Osteobl	bone
15	chr10:116468400-116470400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr10:116468400-116471200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr10:116468400-116474200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr10:116468400-116474200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr10:116468600-116469400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr10:116468800-116471200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr10:116468800-116471200	Weak transcription	Right Ventricle	heart
22	chr10:116468800-116471200	Weak transcription	Stomach Mucosa	stomach
23	chr10:116468800-116472400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr10:116468800-116472600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr10:116468800-116472600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr10:116468800-116472600	Weak transcription	Adipose Nuclei	Adipose
27	chr10:116468800-116473000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr10:116468800-116473800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr10:116469000-116470400	Weak transcription	Left Ventricle	heart
30	chr10:116469000-116472600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr10:116469000-116472600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr10:116469000-116472600	Weak transcription	Brain Substantia Nigra	brain
33	chr10:116469000-116472800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr10:116469000-116474000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr10:116469200-116469600	Enhancers	A549	lung
36	chr10:116469200-116469800	Enhancers	NH-A	brain
37	chr10:116469200-116470000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr10:116469200-116471200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr10:116469200-116471400	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr10:116469200-116472600	Weak transcription	HUVEC	blood vessel
41	chr10:116469200-116473000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr10:116469200-116473200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr10:116469200-116473200	Weak transcription	Primary hematopoietic stem cells	blood
44	chr10:116469200-116473400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr10:116469200-116474000	Weak transcription	NHEK	skin

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