Variant report

Variant	nsv551034
Chromosome Location	chr10:57035385-57068476
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:57063877..57064377-chr19:2475827..2476338,2	HCT-116	colon:
2	chr10:57047149..57047763-chr10:57389634..57390254,2	MCF-7	breast:
3	chr10:57046815..57047629-chr10:57390561..57391169,3	MCF-7	breast:
4	chr10:57046804..57047423-chr10:57260630..57261301,2	MCF-7	breast:
5	chr10:57045296..57046208-chr13:38876652..38877471,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000099860	chromatin interactions

Extended variants
information (count: 260 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:260 , 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	rs563192712	chr10:57041605-57041606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs578255056	chr10:57041631-57041632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs79252960	chr10:57041642-57041643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530617294	chr10:57041657-57041658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs116231095	chr10:57041665-57041666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563953758	chr10:57041668-57041669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529333955	chr10:57041669-57041670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs59504903	chr10:57041688-57041689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192322419	chr10:57041691-57041692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs60520924	chr10:57041699-57041700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549355933	chr10:57041735-57041736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559629496	chr10:57041776-57041777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs183642125	chr10:57041779-57041780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551310461	chr10:57041806-57041807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs200740857	chr10:57041835-57041836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185387786	chr10:57041884-57041885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs550489691	chr10:57042029-57042030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561194235	chr10:57042114-57042115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535912173	chr10:57042124-57042125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552893969	chr10:57042136-57042137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572852115	chr10:57042139-57042140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538697965	chr10:57042164-57042165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558396751	chr10:57042225-57042226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530216891	chr10:57042231-57042232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs578232864	chr10:57042239-57042240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs544008706	chr10:57042269-57042270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564017375	chr10:57042308-57042309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs144592971	chr10:57042410-57042411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs34913468	chr10:57042463-57042464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs371210195	chr10:57042469-57042470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs542664877	chr10:57042475-57042476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs7083769	chr10:57042478-57042479	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs528595024	chr10:57042495-57042496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189994727	chr10:57042563-57042564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182200065	chr10:57042571-57042572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs561049492	chr10:57042610-57042611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs7071104	chr10:57042637-57042638	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs550354260	chr10:57042674-57042675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs140287371	chr10:57042715-57042716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536501930	chr10:57042754-57042755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546299122	chr10:57042800-57042801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs145299170	chr10:57042846-57042847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs148352943	chr10:57042848-57042849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs377350068	chr10:57042862-57042863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs568969469	chr10:57042867-57042868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs112854668	chr10:57042876-57042877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs187343538	chr10:57042877-57042878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs574253967	chr10:57042932-57042933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs543272602	chr10:57042935-57042936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs12256802	chr10:57042977-57042978	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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:57041600-57044200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr10:57042800-57043400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr10:57044200-57045600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr10:57045600-57046000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr10:57055800-57056400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr10:57065000-57065600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr10:57068000-57068600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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