Variant report

Variant	nsv551033
Chromosome Location	chr10:57027058-57059690
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:57046815..57047629-chr10:57390561..57391169,3	MCF-7	breast:
2	chr10:57046804..57047423-chr10:57260630..57261301,2	MCF-7	breast:
3	chr10:57047149..57047763-chr10:57389634..57390254,2	MCF-7	breast:
4	chr10:57045296..57046208-chr13:38876652..38877471,2	MCF-7	breast:

Extended variants
information (count: 284 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:284 , 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	rs531110241	chr10:57032440-57032441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs568452846	chr10:57032479-57032480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs35967481	chr10:57032531-57032532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534177083	chr10:57032543-57032544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553773642	chr10:57032599-57032600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567264996	chr10:57032670-57032671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs577138466	chr10:57032678-57032679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs367630599	chr10:57032712-57032713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572318582	chr10:57032740-57032741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556646224	chr10:57032798-57032799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs189609973	chr10:57032832-57032833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542087245	chr10:57032853-57032854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561825251	chr10:57032854-57032855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527585673	chr10:57032890-57032891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181826237	chr10:57032937-57032938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563941881	chr10:57032938-57032939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532977926	chr10:57032998-57032999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549487713	chr10:57033002-57033003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567949564	chr10:57033009-57033010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs117601178	chr10:57033017-57033018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs72803834	chr10:57033036-57033037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528944404	chr10:57033067-57033068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536044125	chr10:57033119-57033120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375044568	chr10:57033163-57033164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138002706	chr10:57033256-57033257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554485230	chr10:57033263-57033264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571035832	chr10:57033276-57033277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs76553814	chr10:57033282-57033283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs113536336	chr10:57033292-57033293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs74487207	chr10:57033299-57033300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs149482705	chr10:57033301-57033302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs145955007	chr10:57033308-57033309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs77670030	chr10:57033315-57033316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs190863000	chr10:57033339-57033340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564430779	chr10:57033351-57033352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577854031	chr10:57033415-57033416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs114173946	chr10:57033435-57033436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs180817770	chr10:57033465-57033466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528978694	chr10:57033466-57033467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs370586001	chr10:57033468-57033469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs113704756	chr10:57033469-57033470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559010637	chr10:57033486-57033487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs534873255	chr10:57033516-57033517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs139704436	chr10:57033549-57033550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs571163248	chr10:57033623-57033624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs112129347	chr10:57033633-57033634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs35052506	chr10:57033687-57033688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs58867094	chr10:57033689-57033690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs200434690	chr10:57033690-57033691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs398054372	chr10:57033701-57033702	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Breast cancer	22522925	CNVD
Usher type I cohort	17277737	CNVD
Usher type I cohort	21436283	CNVD
Leukemia	21357790	CNVD
Medulloblastoma	22832581	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:57032400-57034000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr10:57032400-57034600	Enhancers	Fetal Brain Male	brain
3	chr10:57032600-57034600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr10:57033200-57033800	Enhancers	Fetal Brain Female	brain
5	chr10:57041600-57044200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr10:57042800-57043400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr10:57044200-57045600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr10:57045600-57046000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr10:57055800-57056400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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