Variant report

Variant	nsv947641
Chromosome Location	chr10:58620064-58685420
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:58680185..58682276-chr10:58683492..58686335,2	K562	blood:
2	chr10:58680185..58682276-chr10:58683492..58686335,2	K562	blood:
3	chr10:58621047..58621938-chr15:50576510..50577380,2	MCF-7	breast:

Extended variants
information (count: 906 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:906 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557625607	chr10:58620085-58620086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs192637589	chr10:58620086-58620087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537031192	chr10:58620087-58620088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184907140	chr10:58620102-58620103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576497961	chr10:58620126-58620127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540846473	chr10:58620140-58620141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143147900	chr10:58620188-58620189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541797289	chr10:58620192-58620193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189805747	chr10:58620252-58620253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563595937	chr10:58620298-58620299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140433630	chr10:58620356-58620357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139405814	chr10:58620360-58620361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111448593	chr10:58620369-58620370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs398114393	chr10:58620370-58620371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs6481236	chr10:58620371-58620372	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs78926242	chr10:58620373-58620374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34702142	chr10:58620440-58620441	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs12765726	chr10:58620451-58620452	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs145272993	chr10:58620483-58620484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529487465	chr10:58620491-58620492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112071028	chr10:58620502-58620503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540744097	chr10:58620580-58620581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551020580	chr10:58620589-58620590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569519318	chr10:58620603-58620604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538421381	chr10:58620613-58620614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2014451	chr10:58620629-58620630	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs558105271	chr10:58620633-58620634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570212814	chr10:58620670-58620671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534372540	chr10:58620674-58620675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560837853	chr10:58620736-58620737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552638944	chr10:58620872-58620873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186106262	chr10:58620947-58620948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188936789	chr10:58620950-58620951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139552834	chr10:58621035-58621036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149712735	chr10:58621038-58621039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563429403	chr10:58621039-58621040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546241492	chr10:58621048-58621049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530875936	chr10:58621054-58621055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549178905	chr10:58621090-58621091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs76434562	chr10:58621114-58621115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528485419	chr10:58621135-58621136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540779270	chr10:58621152-58621153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs76107412	chr10:58621157-58621158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529680014	chr10:58621165-58621166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145581708	chr10:58621170-58621171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568113380	chr10:58621263-58621264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34469439	chr10:58621289-58621290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551122021	chr10:58621306-58621307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569474857	chr10:58621307-58621308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375107144	chr10:58621431-58621432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:58618600-58636000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr10:58621800-58622200	Enhancers	Fetal Lung	lung
3	chr10:58626800-58627400	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr10:58636000-58636200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr10:58636200-58639800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr10:58636400-58637000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr10:58639400-58640200	Enhancers	Fetal Lung	lung
8	chr10:58640200-58640800	Flanking Active TSS	Fetal Lung	lung
9	chr10:58640400-58640800	Enhancers	Adipose Nuclei	Adipose
10	chr10:58640400-58641200	Enhancers	Ovary	ovary
11	chr10:58640600-58641200	Enhancers	Fetal Stomach	stomach
12	chr10:58640800-58642000	Enhancers	Fetal Lung	lung
13	chr10:58641000-58641600	Enhancers	Fetal Kidney	kidney
14	chr10:58655200-58655800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr10:58676800-58677600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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