Variant report

Variant	esv3422043
Chromosome Location	chr10:56918746-56920194
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116530776	chr10:56918754-56918755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs2589442	chr10:56918764-56918765	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs576659779	chr10:56918767-56918768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371739448	chr10:56918809-56918810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7079703	chr10:56918815-56918816	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs566933611	chr10:56918823-56918824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2589443	chr10:56918877-56918878	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs188222083	chr10:56918887-56918888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2589444	chr10:56918888-56918889	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs16915146	chr10:56918958-56918959	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs191834369	chr10:56918972-56918973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534620208	chr10:56919021-56919022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200966931	chr10:56919056-56919057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs58341244	chr10:56919067-56919068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184047058	chr10:56919068-56919069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189076005	chr10:56919080-56919081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368727232	chr10:56919105-56919106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368412506	chr10:56919106-56919107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549423982	chr10:56919108-56919109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs61850937	chr10:56919109-56919110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs61850938	chr10:56919113-56919114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs61145272	chr10:56919132-56919133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376509744	chr10:56919137-56919138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369386308	chr10:56919138-56919139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375054319	chr10:56919143-56919144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs367636424	chr10:56919149-56919150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs61850939	chr10:56919150-56919151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs56297688	chr10:56919154-56919155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs57264776	chr10:56919155-56919156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12782018	chr10:56919169-56919170	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs138764335	chr10:56919185-56919186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149301731	chr10:56919197-56919198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370313050	chr10:56919211-56919212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531168783	chr10:56919219-56919220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529106499	chr10:56919250-56919251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529327286	chr10:56919265-56919266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181628895	chr10:56919270-56919271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543120870	chr10:56919271-56919272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533264876	chr10:56919374-56919375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538208821	chr10:56919438-56919439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186699235	chr10:56919459-56919460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111315950	chr10:56919475-56919476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535708980	chr10:56919558-56919559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190813622	chr10:56919610-56919611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571356352	chr10:56919668-56919669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556619144	chr10:56919672-56919673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182018539	chr10:56919705-56919706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550477419	chr10:56919779-56919780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201581829	chr10:56919788-56919789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371980180	chr10:56919789-56919790	Weak transcription	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
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
Breast cancer	22522925	CNVD
Usher type I cohort	17277737	CNVD
Usher type I cohort	21436283	CNVD
Leukemia	21357790	CNVD
Medulloblastoma	22832581	CNVD
small cell lung cancer	17426248	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:56918200-56919000	Enhancers	Fetal Heart	heart
2	chr10:56918400-56918800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr10:56918400-56918800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr10:56918800-56920600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr10:56920000-56920600	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr10:56920000-56920800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr10:56920000-56921800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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