Variant report

Variant	rs808252
Chromosome Location	chr10:116472099-116472100
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	chr10:116469822..116472730-chr10:116527178..116529089,2	MCF-7	breast:
2	chr10:116471677..116474486-chr10:116483195..116484709,2	MCF-7	breast:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11196894	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs217185	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs217186	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs217197	0.83[EUR][1000 genomes]
rs217198	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2532819	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67402998	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs808257	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs808260	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs808261	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs808262	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs808277	1.00[ASN][1000 genomes]
rs808278	1.00[ASN][1000 genomes]
rs808284	1.00[ASN][1000 genomes]
rs808292	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs808293	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs808297	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs808300	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs808304	1.00[ASN][1000 genomes]
rs808308	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs808309	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs808310	1.00[ASN][1000 genomes]
rs808311	1.00[ASN][1000 genomes]
rs808312	1.00[ASN][1000 genomes]
rs808315	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs808317	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs808318	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs808319	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs808320	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs808324	1.00[ASN][1000 genomes]
rs808326	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs808327	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs808328	1.00[ASN][1000 genomes]
rs808329	1.00[ASN][1000 genomes]
rs808333	1.00[ASN][1000 genomes]
rs808334	1.00[ASN][1000 genomes]
rs808335	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs808337	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs808343	0.81[EUR][1000 genomes]
rs808345	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs808354	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs808356	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];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:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116465200-116472600	Weak transcription	Brain Hippocampus Middle	brain
2	chr10:116465400-116472200	Weak transcription	Brain Anterior Caudate	brain
3	chr10:116466400-116473600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr10:116466800-116473400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr10:116468400-116474200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr10:116468400-116474200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr10:116468800-116472400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr10:116468800-116472600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr10:116468800-116472600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr10:116468800-116472600	Weak transcription	Adipose Nuclei	Adipose
11	chr10:116468800-116473000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr10:116468800-116473800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr10:116469000-116472600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr10:116469000-116472600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr10:116469000-116472600	Weak transcription	Brain Substantia Nigra	brain
16	chr10:116469000-116472800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr10:116469000-116474000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr10:116469200-116472600	Weak transcription	HUVEC	blood vessel
19	chr10:116469200-116473000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr10:116469200-116473200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr10:116469200-116473200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr10:116469200-116473400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr10:116469200-116474000	Weak transcription	NHEK	skin
24	chr10:116469400-116473200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr10:116469800-116472800	Weak transcription	NH-A	brain
26	chr10:116470000-116473000	Weak transcription	NHDF-Ad	bronchial
27	chr10:116470000-116473400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr10:116470000-116473600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr10:116470200-116472800	Weak transcription	A549	lung
30	chr10:116470200-116473800	Weak transcription	HMEC	breast
31	chr10:116470400-116472800	Enhancers	Fetal Heart	heart
32	chr10:116470400-116473400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr10:116470400-116474000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr10:116471000-116472800	Enhancers	Left Ventricle	heart
35	chr10:116471200-116472600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr10:116471400-116473600	Weak transcription	Brain Cingulate Gyrus	brain
37	chr10:116471600-116473000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr10:116471600-116474000	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr10:116471600-116474000	Weak transcription	Lung	lung
40	chr10:116471800-116473000	Weak transcription	Hela-S3	cervix
41	chr10:116471800-116473800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr10:116471800-116474000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr10:116471800-116474000	Weak transcription	Gastric	stomach
44	chr10:116471800-116474000	Weak transcription	Stomach Mucosa	stomach
45	chr10:116471800-116475200	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr10:116471800-116476800	Weak transcription	Right Ventricle	heart
47	chr10:116472000-116472600	Weak transcription	Right Atrium	heart
48	chr10:116472000-116472800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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