Variant report

Variant	nsv972091
Chromosome Location	chr11:3612913-3613413
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548136757	chr11:3612914-3612915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529731707	chr11:3612919-3612920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563481737	chr11:3612946-3612947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530722220	chr11:3612947-3612948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549467447	chr11:3612950-3612951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2032429	chr11:3612975-3612976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552329863	chr11:3612987-3612988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2032431	chr11:3612988-3612989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2032432	chr11:3612994-3612995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570546721	chr11:3613015-3613016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534386786	chr11:3613016-3613017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546600177	chr11:3613026-3613027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567921047	chr11:3613040-3613041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368913071	chr11:3613041-3613042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536157183	chr11:3613055-3613056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557224199	chr11:3613074-3613075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575478203	chr11:3613096-3613097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181197932	chr11:3613104-3613105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557861766	chr11:3613120-3613121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573299716	chr11:3613127-3613128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2032433	chr11:3613131-3613132	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs148001242	chr11:3613143-3613144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141539072	chr11:3613154-3613155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150868020	chr11:3613160-3613161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542193329	chr11:3613162-3613163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11028320	chr11:3613163-3613164	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs3986439	chr11:3613212-3613213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530761143	chr11:3613217-3613218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552417977	chr11:3613230-3613231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564101835	chr11:3613238-3613239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186195378	chr11:3613259-3613260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546339953	chr11:3613273-3613274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11028321	chr11:3613293-3613294	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs11028322	chr11:3613328-3613329	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs550888230	chr11:3613369-3613370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs9667228	chr11:3613370-3613371	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs190224263	chr11:3613396-3613397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2412287	chr11:3613411-3613412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs2412288	chr11:3613413-3613414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3606400-3635800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:3613400-3615400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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