Variant report

Variant	esv20105
Chromosome Location	chr10:55939729-56047721
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:55968347..55970600-chr10:55971292..55973381,2	K562	blood:
2	chr10:55961337..55963211-chr10:57586910..57589588,2	K562	blood:
3	10:55527193-55535408..10:55949104-55956834	K562	blood:
4	chr10:55968347..55970600-chr10:55971292..55973381,2	K562	blood:

Extended variants
information (count: 392 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:392 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375576450	chr10:55962802-55962803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs372622051	chr10:55962804-55962805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs115707041	chr10:55962869-55962870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs79627650	chr10:55962883-55962884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182685628	chr10:55962897-55962898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555442504	chr10:55962904-55962905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555291362	chr10:55962913-55962914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568369115	chr10:55962936-55962937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs140648198	chr10:55962944-55962945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs79080348	chr10:55963044-55963045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567118195	chr10:55963052-55963053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs187405172	chr10:55963143-55963144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552948017	chr10:55963144-55963145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs7093533	chr10:55963150-55963151	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs142871807	chr10:55963152-55963153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs190775055	chr10:55963178-55963179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553238586	chr10:55963259-55963260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537118670	chr10:55963265-55963266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577982770	chr10:55963268-55963269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs16905760	chr10:55963315-55963316	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs116173073	chr10:55963327-55963328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7092751	chr10:55963331-55963332	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs183302011	chr10:55963335-55963336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189246352	chr10:55963358-55963359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573617477	chr10:55963360-55963361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs147424611	chr10:55963365-55963366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192290121	chr10:55963390-55963391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs139471654	chr10:55963422-55963423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575605581	chr10:55963431-55963432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs542710095	chr10:55963444-55963445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557206173	chr10:55963449-55963450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550365583	chr10:55963451-55963452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs112904018	chr10:55963463-55963464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs10740577	chr10:55963500-55963501	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs529656722	chr10:55963527-55963528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs377502788	chr10:55963531-55963532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs144986547	chr10:55963562-55963563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs144949376	chr10:55963563-55963564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs116898034	chr10:55963577-55963578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552076313	chr10:55963589-55963590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs184289940	chr10:55963600-55963601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs201755803	chr10:55966600-55966601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs576097890	chr10:55966606-55966607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs190625052	chr10:55966677-55966678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs140518345	chr10:55966697-55966698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs11004137	chr10:55966701-55966702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs10740578	chr10:55966721-55966722	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs550733059	chr10:55966739-55966740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs116787475	chr10:55966745-55966746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs150389793	chr10:55966825-55966826	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Melanoma	17363583	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:55962800-55963600	Enhancers	HUVEC	blood vessel
2	chr10:55966600-55967000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr10:55987000-55987400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr10:55987400-55990800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr10:55988600-55990800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr10:55990800-55991400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr10:55990800-55991600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr10:56000800-56001800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr10:56000800-56002600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr10:56019000-56019200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr10:56041600-56042200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr10:56041600-56042200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr10:56041600-56042200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr10:56041800-56042200	Enhancers	H1 Cell Line	embryonic stem cell
15	chr10:56041800-56042400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr10:56043600-56044000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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