Variant report

Variant	esv13549
Chromosome Location	chr10:95388745-95390055
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	chr10:95388901..95391742-chr10:95395841..95398352,2	MCF-7	breast:

Extended variants
information (count: 57 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183303271	chr10:95389011-95389012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs137978647	chr10:95389035-95389036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs714550	chr10:95389041-95389042	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs556892228	chr10:95389044-95389045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs141632582	chr10:95389045-95389046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs145836229	chr10:95389047-95389048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs714549	chr10:95389083-95389084	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs553298112	chr10:95389087-95389088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572510554	chr10:95389095-95389096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs714551	chr10:95389124-95389125	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs373661949	chr10:95389136-95389137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs115920237	chr10:95389158-95389159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574853551	chr10:95389181-95389182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552577227	chr10:95389203-95389204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs71485914	chr10:95389249-95389250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs1409334	chr10:95389251-95389252	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs148155155	chr10:95389294-95389295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186176776	chr10:95389307-95389308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs59194125	chr10:95389331-95389332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190843192	chr10:95389340-95389341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575263293	chr10:95389356-95389357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568013626	chr10:95389400-95389401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs150184806	chr10:95389459-95389460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550601668	chr10:95389464-95389465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs369961289	chr10:95389478-95389479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs376214489	chr10:95389484-95389485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539632100	chr10:95389512-95389513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs553334884	chr10:95389543-95389544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs566797577	chr10:95389554-95389555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561097052	chr10:95389676-95389677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs4919339	chr10:95389681-95389682	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs74150296	chr10:95389687-95389688	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs685932	chr10:95389691-95389692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs367847732	chr10:95389706-95389707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs557417902	chr10:95389707-95389708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577058266	chr10:95389708-95389709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs371342364	chr10:95389718-95389719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs4917871	chr10:95389728-95389729	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs573214912	chr10:95389742-95389743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs138734412	chr10:95389751-95389752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs143030823	chr10:95389752-95389753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs527724819	chr10:95389757-95389758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs183402320	chr10:95389765-95389766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs4919340	chr10:95389781-95389782	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs564152007	chr10:95389863-95389864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs200866063	chr10:95389871-95389872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs386746639	chr10:95389874-95389875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs186754909	chr10:95389875-95389876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs10882288	chr10:95389876-95389877	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs10882289	chr10:95389907-95389908	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:71)

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
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
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
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
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Wilms tumour	21544195	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cervical cancer	21062161	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	24453001	CNVD
Breast cancer	16608533	CNVD
Sezary syndrome	18413736	CNVD
Intracranial aneurysm	16715129	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:95389000-95391400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr10:95389600-95389800	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr10:95389600-95390000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr10:95389600-95390000	Enhancers	Fetal Kidney	kidney
5	chr10:95389800-95391000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr10:95389800-95391400	Enhancers	Fetal Brain Female	brain
7	chr10:95390000-95391400	Enhancers	Fetal Brain Male	brain
8	chr10:95390000-95391400	Enhancers	Fetal Muscle Trunk	muscle

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