Variant report

Variant	esv1835587
Chromosome Location	chr10:56451913-56469288
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 203 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:203 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1336196	chr10:56451913-56451914	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs572282936	chr10:56451925-56451926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541293998	chr10:56451945-56451946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564175719	chr10:56451979-56451980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185440033	chr10:56452026-56452027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs372940915	chr10:56452029-56452030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12773966	chr10:56452075-56452076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540131506	chr10:56452121-56452122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs145976098	chr10:56452136-56452137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs117062321	chr10:56452242-56452243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564207066	chr10:56452269-56452270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs531812654	chr10:56452270-56452271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs72794520	chr10:56452350-56452351	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs562098881	chr10:56452351-56452352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528003730	chr10:56452365-56452366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs11004445	chr10:56452379-56452380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs189509481	chr10:56452399-56452400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs78524964	chr10:56452411-56452412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375623036	chr10:56452447-56452448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs370532217	chr10:56452448-56452449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs200973026	chr10:56452451-56452452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs34339360	chr10:56452452-56452453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs61854063	chr10:56452459-56452460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs66510225	chr10:56452474-56452475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs61854064	chr10:56452475-56452476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs28665931	chr10:56452482-56452483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs202014440	chr10:56452483-56452484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs147720367	chr10:56452486-56452487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569426191	chr10:56452489-56452490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548711255	chr10:56452500-56452501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs11004446	chr10:56452507-56452508	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs572001141	chr10:56452527-56452528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs527937591	chr10:56452532-56452533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552884976	chr10:56452582-56452583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs571159212	chr10:56452600-56452601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs534654235	chr10:56452634-56452635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs538174961	chr10:56452636-56452637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs558045001	chr10:56452641-56452642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs184179745	chr10:56452668-56452669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543665918	chr10:56452678-56452679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs557159283	chr10:56452694-56452695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs188846860	chr10:56452700-56452701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs139841040	chr10:56452713-56452714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs542287908	chr10:56452723-56452724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs142968039	chr10:56452737-56452738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs527694263	chr10:56452781-56452782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs181213166	chr10:56452795-56452796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs568619500	chr10:56458023-56458024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs190280477	chr10:56458078-56458079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs569081045	chr10:56458208-56458209	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Cancer	20164919	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:56450200-56452800	Enhancers	Fetal Lung	lung
2	chr10:56458000-56459000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr10:56466400-56471000	Enhancers	Fetal Lung	lung
4	chr10:56466600-56469000	Enhancers	Fetal Brain Male	brain
5	chr10:56467600-56468800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr10:56468600-56469200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr10:56469200-56470600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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