Variant report

Variant	nsv895547
Chromosome Location	chr10:59122829-59187788
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:59162193..59163830-chr10:59170301..59171826,2	K562	blood:
2	chr10:59119517..59121118-chr10:59121352..59123797,2	K562	blood:
3	chr10:59162193..59163830-chr10:59170301..59171826,2	K562	blood:
4	chr10:59141917..59143760-chr10:59167909..59170297,2	K562	blood:
5	chr10:59173064..59175096-chr10:59176934..59178723,2	K562	blood:
6	chr10:59173064..59175096-chr10:59176934..59178723,2	K562	blood:
7	chr10:59141917..59143760-chr10:59167909..59170297,2	K562	blood:

Extended variants
information (count: 172 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:172 , 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	rs2928429	chr10:59135435-59135436	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566121892	chr10:59135451-59135452	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs536932004	chr10:59135478-59135479	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs140394100	chr10:59135495-59135496	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs370448706	chr10:59135499-59135500	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs189786544	chr10:59135509-59135510	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs558767167	chr10:59135514-59135515	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs559108788	chr10:59135516-59135517	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs571672229	chr10:59135519-59135520	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs577075263	chr10:59135561-59135562	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs138275482	chr10:59135582-59135583	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs115703394	chr10:59135638-59135639	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs538763301	chr10:59135654-59135655	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs182348105	chr10:59135746-59135747	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs74564383	chr10:59135772-59135773	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs115999147	chr10:59155644-59155645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs77264551	chr10:59155665-59155666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs115569665	chr10:59155700-59155701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568661267	chr10:59155745-59155746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs3008786	chr10:59155761-59155762	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs192310953	chr10:59155796-59155797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542000117	chr10:59155798-59155799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563576640	chr10:59155802-59155803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563120236	chr10:59155841-59155842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs67462198	chr10:59155891-59155892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs376012971	chr10:59155893-59155894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543123632	chr10:59155906-59155907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs183258441	chr10:59155934-59155935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186933021	chr10:59156006-59156007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs117136928	chr10:59156027-59156028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547410158	chr10:59156030-59156031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565975925	chr10:59156042-59156043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190606460	chr10:59156057-59156058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs370835370	chr10:59156103-59156104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs139223120	chr10:59156146-59156147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569831197	chr10:59156150-59156151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs373034025	chr10:59156208-59156209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs537270441	chr10:59156252-59156253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552339006	chr10:59156255-59156256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144410191	chr10:59156274-59156275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs143955322	chr10:59156316-59156317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs2928461	chr10:59156322-59156323	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs182474312	chr10:59156331-59156332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs574778745	chr10:59156364-59156365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs187068531	chr10:59156396-59156397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557254649	chr10:59156401-59156402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs191164792	chr10:59156444-59156445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs575386713	chr10:59156481-59156482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs11005783	chr10:59156534-59156535	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs564820040	chr10:59156584-59156585	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
small cell lung cancer	17426248	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:59135400-59135800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
2	chr10:59155600-59156000	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr10:59155600-59156000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr10:59155600-59156200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr10:59155600-59156400	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr10:59155800-59156200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr10:59155800-59156200	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr10:59155800-59156400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr10:59155800-59156600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr10:59155800-59156800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr10:59155800-59156800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr10:59156800-59158800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr10:59158800-59159200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr10:59180600-59181000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr10:59180800-59181200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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