Variant report

Variant	nsv895456
Chromosome Location	chr10:56673719-56707648
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:56700000..56702785-chr10:56708737..56710411,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12767364	chr10:56673719-56673720	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs550438706	chr10:56673728-56673729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570221728	chr10:56673761-56673762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535697940	chr10:56673776-56673777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555592359	chr10:56673784-56673785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572412669	chr10:56673787-56673788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138986737	chr10:56673830-56673831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558151570	chr10:56673835-56673836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs143136667	chr10:56673842-56673843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543892804	chr10:56673884-56673885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs147473841	chr10:56673912-56673913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181800096	chr10:56673915-56673916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112334010	chr10:56673932-56673933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148464047	chr10:56673945-56673946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs369572494	chr10:56673952-56673953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12251229	chr10:56673957-56673958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559654146	chr10:56673969-56673970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528417968	chr10:56673984-56673985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs141722150	chr10:56673990-56673991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150600502	chr10:56674124-56674125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs530463140	chr10:56674142-56674143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs1377992	chr10:56674156-56674157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188073699	chr10:56693279-56693280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs543715030	chr10:56693298-56693299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs78643735	chr10:56693333-56693334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs139853575	chr10:56693336-56693337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575349420	chr10:56693341-56693342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs1670815	chr10:56693368-56693369	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs548093668	chr10:56693396-56693397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs78216104	chr10:56693402-56693403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1706750	chr10:56693408-56693409	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs192849398	chr10:56693463-56693464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537266039	chr10:56693464-56693465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556949536	chr10:56693495-56693496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs142263986	chr10:56693526-56693527	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	17426248	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:56663000-56674000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr10:56673800-56674200	Enhancers	HUVEC	blood vessel
3	chr10:56693200-56693600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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