Variant report

Variant	esv3417824
Chromosome Location	chr10:82949021-82975924
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:82948375..82950105-chr10:82952034..82953593,2	MCF-7	breast:
2	chr10:82948375..82950105-chr10:82952034..82953593,2	MCF-7	breast:

Extended variants
information (count: 270 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:270 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138754597	chr10:82949092-82949093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs550405798	chr10:82949158-82949159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs199670224	chr10:82949165-82949166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570316647	chr10:82949203-82949204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7920001	chr10:82949242-82949243	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs549691095	chr10:82949343-82949344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149355719	chr10:82949357-82949358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs7916998	chr10:82949359-82949360	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs7899846	chr10:82949373-82949374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs11188779	chr10:82949391-82949392	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs113779594	chr10:82949397-82949398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148719638	chr10:82949400-82949401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556743406	chr10:82949401-82949402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190128220	chr10:82949429-82949430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs542539873	chr10:82949467-82949468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs371591564	chr10:82949476-82949477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs143636316	chr10:82949529-82949530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182305038	chr10:82949631-82949632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545002045	chr10:82949663-82949664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs370094173	chr10:82949669-82949670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148282312	chr10:82949695-82949696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376528527	chr10:82949709-82949710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs369444578	chr10:82949765-82949766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538604830	chr10:82949777-82949778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191858542	chr10:82955619-82955620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs577519477	chr10:82955622-82955623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141676948	chr10:82955640-82955641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs183890976	chr10:82955641-82955642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543414180	chr10:82955677-82955678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs189298538	chr10:82955712-82955713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs376613287	chr10:82955715-82955716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192742584	chr10:82955742-82955743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs184183659	chr10:82955752-82955753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574135647	chr10:82955797-82955798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs190643143	chr10:82955825-82955826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs573761097	chr10:82955899-82955900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs527854980	chr10:82955903-82955904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs372845090	chr10:82955915-82955916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs542833981	chr10:82955926-82955927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545905813	chr10:82955958-82955959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs548022435	chr10:82955960-82955961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs61851607	chr10:82955976-82955977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs571099911	chr10:82955981-82955982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs143953820	chr10:82955996-82955997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546974063	chr10:82956004-82956005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs371687390	chr10:82956024-82956025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs550482908	chr10:82956039-82956040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs569927126	chr10:82956128-82956129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs535862813	chr10:82956136-82956137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs181942805	chr10:82956142-82956143	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Usher syndrome	20538994	CNVD
Medulloblastoma	16783165	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Paraganglioma	17535989	CNVD
Submicroscopic aberration syndrome	21292638	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	18645599	CNVD
Polyposis syndrome	18645599	CNVD
Prostate cancer	17245344	CNVD
Glioblastoma multiforme	17369134	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	22032731	CNVD
Ovarian cancer	20844748	CNVD
Glioblastoma multiforme	17002787	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:82948800-82949600	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr10:82949400-82949800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr10:82955600-82956600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr10:82956200-82956600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr10:82956600-82957200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr10:82960200-82961000	Enhancers	Liver	Liver
7	chr10:82960800-82961800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr10:82972800-82973800	Enhancers	Liver	Liver
9	chr10:82973800-82977400	Weak transcription	Liver	Liver
10	chr10:82974800-82976000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr10:82975000-82975400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr10:82975000-82976000	Enhancers	Adipose Nuclei	Adipose
13	chr10:82975000-82976400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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