Variant report

Variant	esv3385100
Chromosome Location	chr10:56000996-56003194
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79568236	chr10:56001004-56001005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540944073	chr10:56001007-56001008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564438041	chr10:56001061-56001062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs996320	chr10:56001078-56001079	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs371512292	chr10:56001103-56001104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs199929022	chr10:56001118-56001119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368629170	chr10:56001119-56001120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs2384422	chr10:56001120-56001121	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs59507298	chr10:56001164-56001165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532475198	chr10:56001167-56001168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs996322	chr10:56001220-56001221	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs182301601	chr10:56001245-56001246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561915284	chr10:56001330-56001331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187416584	chr10:56001424-56001425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547490536	chr10:56001462-56001463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114708228	chr10:56001486-56001487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540140124	chr10:56001498-56001499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs191000217	chr10:56001568-56001569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs570301922	chr10:56001574-56001575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182079336	chr10:56001575-56001576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186673252	chr10:56001588-56001589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571928176	chr10:56001599-56001600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531617659	chr10:56001628-56001629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs150537581	chr10:56001704-56001705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189985432	chr10:56001846-56001847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs577477825	chr10:56001874-56001875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs56089416	chr10:56001890-56001891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375147819	chr10:56001891-56001892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs7097945	chr10:56001907-56001908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs146244970	chr10:56001934-56001935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs57729172	chr10:56001943-56001944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs71890703	chr10:56001944-56001945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs10825282	chr10:56001947-56001948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564364203	chr10:56001949-56001950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs71007827	chr10:56001960-56001961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543354624	chr10:56001999-56002000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs7077036	chr10:56002024-56002025	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs541944357	chr10:56002032-56002033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs111261313	chr10:56002055-56002056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs188590128	chr10:56002078-56002079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs12252710	chr10:56002136-56002137	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs192955401	chr10:56002153-56002154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs12261807	chr10:56002162-56002163	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs185669197	chr10:56002183-56002184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs116639921	chr10:56002203-56002204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs114186003	chr10:56002213-56002214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs538542710	chr10:56002262-56002263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs11004160	chr10:56002319-56002320	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs188934225	chr10:56002329-56002330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534430582	chr10:56002345-56002346	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Cancer	20164919	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:56000800-56001800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr10:56000800-56002600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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