Variant report

Variant	nsv948012
Chromosome Location	chr10:56178695-56181893
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146831797	chr10:56179003-56179004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs58891545	chr10:56179004-56179005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149146732	chr10:56179010-56179011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs386371411	chr10:56179017-56179018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs397938565	chr10:56179020-56179021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544536066	chr10:56179046-56179047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs117941022	chr10:56179068-56179069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188330443	chr10:56179082-56179083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1758819	chr10:56179095-56179096	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs1774650	chr10:56179114-56179115	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs528558314	chr10:56179125-56179126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs141735214	chr10:56179126-56179127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs35727498	chr10:56179142-56179143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs57872875	chr10:56179143-56179144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs565316436	chr10:56179150-56179151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs530908727	chr10:56179175-56179176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551282719	chr10:56179218-56179219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567833038	chr10:56179235-56179236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs11004292	chr10:56179244-56179245	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs369116201	chr10:56179282-56179283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73238744	chr10:56179289-56179290	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs73238747	chr10:56179326-56179327	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs544086687	chr10:56179355-56179356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558221865	chr10:56179360-56179361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568547452	chr10:56179374-56179375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs562282129	chr10:56179382-56179383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs537422903	chr10:56179390-56179391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs377270894	chr10:56179392-56179393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs145597583	chr10:56179393-56179394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574612998	chr10:56179397-56179398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185298242	chr10:56179462-56179463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs35215602	chr10:56179545-56179546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574354789	chr10:56179576-56179577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs554052870	chr10:56179589-56179590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs117122961	chr10:56179620-56179621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs7923527	chr10:56179649-56179650	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs565355041	chr10:56179651-56179652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs1758824	chr10:56179660-56179661	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs544244813	chr10:56179670-56179671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs561635454	chr10:56179672-56179673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs1758826	chr10:56179674-56179675	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs373242410	chr10:56179697-56179698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547269552	chr10:56179778-56179779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs566764606	chr10:56179845-56179846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs188641789	chr10:56179847-56179848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs369302143	chr10:56179864-56179865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs74136148	chr10:56179884-56179885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs1774651	chr10:56179885-56179886	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs376942298	chr10:56179896-56179897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs370285582	chr10:56179924-56179925	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Developmental delay	21948486	CNVD
Intellectual disability	21948486	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
Colorectal cancer	16774939	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
Pancreatic cancer	17952125	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD
Cancer	20164919	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:56179000-56180400	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr10:56179200-56179800	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr10:56179400-56180000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr10:56181400-56181600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr10:56181400-56181600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast

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