Variant report

Variant	esv3382494
Chromosome Location	chr10:57380996-57382944
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535188558	chr10:57381015-57381016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542401825	chr10:57381029-57381030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559154539	chr10:57381076-57381077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528150747	chr10:57381147-57381148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374002536	chr10:57381150-57381151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551084473	chr10:57381155-57381156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs80275494	chr10:57381160-57381161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184511223	chr10:57381181-57381182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530436771	chr10:57381191-57381192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs147509240	chr10:57381199-57381200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570250823	chr10:57381202-57381203	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536195427	chr10:57381215-57381216	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111760433	chr10:57381246-57381247	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371524302	chr10:57381260-57381261	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535084663	chr10:57381263-57381264	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116528678	chr10:57381308-57381309	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577921976	chr10:57381332-57381333	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73263402	chr10:57381340-57381341	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs557363829	chr10:57381348-57381349	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs78002343	chr10:57381350-57381351	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189442162	chr10:57381351-57381352	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140124672	chr10:57381416-57381417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111829421	chr10:57381567-57381568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574427441	chr10:57381568-57381569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181280740	chr10:57381590-57381591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184709542	chr10:57381617-57381618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564834537	chr10:57381620-57381621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114965171	chr10:57381636-57381637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111719900	chr10:57381643-57381644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550297814	chr10:57381644-57381645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145430478	chr10:57381696-57381697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1919697	chr10:57381747-57381748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369066661	chr10:57381749-57381750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572082409	chr10:57381752-57381753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566235862	chr10:57381792-57381793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535234032	chr10:57381816-57381817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150647819	chr10:57381843-57381844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571637810	chr10:57381861-57381862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576318476	chr10:57381890-57381891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375256616	chr10:57381891-57381892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111463922	chr10:57381916-57381917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs60968787	chr10:57381942-57381943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537583665	chr10:57382074-57382075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557049550	chr10:57382099-57382100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573716738	chr10:57382103-57382104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139676288	chr10:57382108-57382109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112261345	chr10:57382120-57382121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572656886	chr10:57382237-57382238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190042635	chr10:57382266-57382267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527700064	chr10:57382286-57382287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Cancer	20164919	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:57374000-57386000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr10:57380000-57387000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr10:57381200-57381400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr10:57381200-57381400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr10:57381200-57381400	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr10:57381400-57385400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr10:57381400-57387200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr10:57382800-57383000	Enhancers	H9 Cell Line	embryonic stem cell

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