Variant report

Variant	nsv527089
Chromosome Location	chr10:83184774-83188768
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:83184138..83185730-chr10:83186602..83188404,2	MCF-7	breast:
2	chr10:83187635..83190327-chr10:83192478..83195276,2	K562	blood:
3	chr10:83187635..83190480-chr10:83192191..83193978,2	K562	blood:
4	chr10:83184138..83185730-chr10:83186602..83188404,2	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12414363	chr10:83184774-83184775	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs555896972	chr10:83184785-83184786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs6584049	chr10:83187807-83187808	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs375700270	chr10:83187810-83187811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs72327715	chr10:83187855-83187856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs371068573	chr10:83187880-83187881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7922002	chr10:83187881-83187882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs148834748	chr10:83187896-83187897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs143444003	chr10:83187898-83187899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs72809734	chr10:83187909-83187910	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs137861038	chr10:83187930-83187931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540113359	chr10:83187949-83187950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560436902	chr10:83187980-83187981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576426627	chr10:83187985-83187986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs6584050	chr10:83187998-83187999	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs181672891	chr10:83188031-83188032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570734653	chr10:83188041-83188042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531269576	chr10:83188178-83188179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185579654	chr10:83188198-83188199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs561275795	chr10:83188215-83188216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs143078392	chr10:83188301-83188302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546969932	chr10:83188340-83188341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs12240772	chr10:83188374-83188375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs372330262	chr10:83188396-83188397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs190096892	chr10:83188400-83188401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs532531004	chr10:83188418-83188419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs145147874	chr10:83188434-83188435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569290523	chr10:83188435-83188436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537926451	chr10:83188461-83188462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs552606657	chr10:83188514-83188515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs182338974	chr10:83188534-83188535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568152154	chr10:83188631-83188632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs534039218	chr10:83188648-83188649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553628543	chr10:83188662-83188663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs576761427	chr10:83188721-83188722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs1329202	chr10:83188768-83188769	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:60)

Disease	PMID	Source
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
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	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
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Usher syndrome	20538994	CNVD
Medulloblastoma	16783165	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Paraganglioma	17535989	CNVD
Submicroscopic aberration syndrome	21292638	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	18645599	CNVD
Polyposis syndrome	18645599	CNVD
Prostate cancer	17245344	CNVD
Glioblastoma multiforme	17369134	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	22032731	CNVD
Ovarian cancer	20844748	CNVD
Glioblastoma multiforme	17002787	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:83184400-83184800	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr10:83184400-83184800	Enhancers	Brain Germinal Matrix	brain
3	chr10:83187800-83189200	Enhancers	Liver	Liver

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