Variant report

Variant	esv3693060
Chromosome Location	chr10:58577802-58602006
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	chr10:58599935..58600523-chr14:31323462..31324054,2	MCF-7	breast:

Extended variants
information (count: 168 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:168 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540888389	chr10:58580864-58580865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs188461014	chr10:58580865-58580866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558844624	chr10:58580870-58580871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540737128	chr10:58580873-58580874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561999966	chr10:58580895-58580896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574288863	chr10:58580908-58580909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10825907	chr10:58580909-58580910	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs563055737	chr10:58581018-58581019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs58255112	chr10:58581040-58581041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200977348	chr10:58581041-58581042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs61385381	chr10:58581067-58581068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373291311	chr10:58581068-58581069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs71020915	chr10:58581100-58581101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374230919	chr10:58581101-58581102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs398013585	chr10:58581108-58581109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533693679	chr10:58581109-58581110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10825908	chr10:58581129-58581130	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs192724172	chr10:58581161-58581162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs117327586	chr10:58581212-58581213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546675737	chr10:58581366-58581367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568107847	chr10:58581383-58581384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373521083	chr10:58581435-58581436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184723753	chr10:58581438-58581439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76326685	chr10:58581479-58581480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs202055526	chr10:58581481-58581482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78040036	chr10:58581493-58581494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs398013586	chr10:58581505-58581506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111431776	chr10:58581514-58581515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76054287	chr10:58581545-58581546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374732582	chr10:58581593-58581594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10825910	chr10:58581600-58581601	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs566868228	chr10:58581611-58581612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144591125	chr10:58581629-58581630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138545420	chr10:58581638-58581639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555442880	chr10:58581666-58581667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545207160	chr10:58581677-58581678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141093820	chr10:58581693-58581694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556816387	chr10:58581696-58581697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188446578	chr10:58581707-58581708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545693621	chr10:58581708-58581709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560575611	chr10:58581725-58581726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565185381	chr10:58581753-58581754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150283310	chr10:58581768-58581769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561333587	chr10:58581772-58581773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528985913	chr10:58581778-58581779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191960476	chr10:58581779-58581780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138862299	chr10:58581805-58581806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184795685	chr10:58581924-58581925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551656771	chr10:58581940-58581941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566701837	chr10:58581964-58581965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
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
Thoracic aortic aneurysm	21092924	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
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	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
Obesity	21956041	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Mental retardation	17124404	CNVD
Epilepsy	20923578	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Glioblastoma multiforme	22286061	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	20858243	CNVD
small cell lung cancer	17426248	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:58580800-58583600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr10:58582000-58582400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr10:58583600-58583800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr10:58597400-58598600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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