Variant report

Variant	nsv551016
Chromosome Location	chr10:56817554-56877760
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:56856112..56857067-chr10:57023573..57024305,2	MCF-7	breast:
2	chr10:56860242..56861881-chr10:56864566..56866178,2	K562	blood:
3	chr10:56860242..56861881-chr10:56864566..56866178,2	K562	blood:
4	chr10:56851202..56852127-chr10:57023430..57024403,6	MCF-7	breast:
5	chr10:56848923..56849830-chr22:31212899..31213539,2	MCF-7	breast:

Extended variants
information (count: 474 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:474 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs180894503	chr10:56824008-56824009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs571660326	chr10:56824011-56824012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572503456	chr10:56824072-56824073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530611219	chr10:56824136-56824137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs11004719	chr10:56824144-56824145	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs147324021	chr10:56824152-56824153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs140984905	chr10:56824173-56824174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566438701	chr10:56824196-56824197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs10825453	chr10:56824228-56824229	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs10430541	chr10:56824247-56824248	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs543834376	chr10:56824271-56824272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575290087	chr10:56824286-56824287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144622450	chr10:56824289-56824290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562116952	chr10:56824308-56824309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557621854	chr10:56824329-56824330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs574299170	chr10:56824331-56824332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146259553	chr10:56824345-56824346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145695602	chr10:56824362-56824363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559798132	chr10:56824376-56824377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs115865745	chr10:56824430-56824431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545114644	chr10:56824431-56824432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565377168	chr10:56824475-56824476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs376654492	chr10:56824478-56824479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs10825454	chr10:56824484-56824485	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs567079997	chr10:56824494-56824495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529839143	chr10:56824543-56824544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs77388026	chr10:56824587-56824588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs1922158	chr10:56824631-56824632	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs538608847	chr10:56824642-56824643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs186244299	chr10:56824651-56824652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189155443	chr10:56824690-56824691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs11004720	chr10:56824723-56824724	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs113727950	chr10:56824755-56824756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs3858273	chr10:56824889-56824890	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs78536933	chr10:56824894-56824895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs11004721	chr10:56824909-56824910	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs543259275	chr10:56824948-56824949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs553613469	chr10:56825083-56825084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181361307	chr10:56825142-56825143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs573485462	chr10:56825153-56825154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs4472838	chr10:56825154-56825155	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs565172773	chr10:56825209-56825210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs185574899	chr10:56825216-56825217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs190726071	chr10:56825274-56825275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs148963478	chr10:56825291-56825292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs142858820	chr10:56825308-56825309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs80228685	chr10:56825319-56825320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546507852	chr10:56825345-56825346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs3905359	chr10:56825358-56825359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs370984419	chr10:56825382-56825383	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
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

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:56824000-56825800	Enhancers	HepG2	liver
2	chr10:56840400-56841000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr10:56840800-56841200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr10:56841000-56841200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr10:56841200-56849000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr10:56847200-56847600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr10:56849000-56849200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr10:56849000-56849200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr10:56849200-56849400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr10:56859800-56860200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr10:56868400-56868800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr10:56868600-56869000	Enhancers	HMEC	breast

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