Variant report

Variant	nsv528580
Chromosome Location	chr22:33575820-33578150
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142288810	chr22:33576031-33576032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs573189292	chr22:33576034-33576035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541864705	chr22:33576045-33576046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188356472	chr22:33576058-33576059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs11913962	chr22:33576093-33576094	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs543613328	chr22:33576138-33576139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563450373	chr22:33576146-33576147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73881977	chr22:33576164-33576165	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs67534349	chr22:33576181-33576182	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs565684179	chr22:33576189-33576190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs137363	chr22:33576285-33576286	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs181015295	chr22:33576296-33576297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568387419	chr22:33576397-33576398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537327855	chr22:33576400-33576401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557267164	chr22:33576405-33576406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs5754483	chr22:33576423-33576424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs137364	chr22:33576488-33576489	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs539694630	chr22:33576574-33576575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs5754484	chr22:33576621-33576622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs376055104	chr22:33576629-33576630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553388388	chr22:33576630-33576631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs183595023	chr22:33576655-33576656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555862630	chr22:33576665-33576666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs537217127	chr22:33576692-33576693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542170437	chr22:33576700-33576701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs555818096	chr22:33576704-33576705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs137365	chr22:33576705-33576706	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs543724233	chr22:33576711-33576712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs149754410	chr22:33576737-33576738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532331240	chr22:33576738-33576739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545682164	chr22:33576751-33576752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs201773978	chr22:33576769-33576770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs559365582	chr22:33576782-33576783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533186553	chr22:33576784-33576785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs68035672	chr22:33576898-33576899	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs190777977	chr22:33576940-33576941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182010155	chr22:33577037-33577038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs145605658	chr22:33577041-33577042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs137366	chr22:33577069-33577070	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs539985079	chr22:33577165-33577166	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	19521646	CNVD
Schizophrenia	18990708	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Hepatocellular carcinoma	16750200	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19384346	CNVD
Myelofibrosis	22110671	CNVD
muscular dystrophy type 1D	21248746	CNVD
Leukoplakia	24403051	CNVD
Ovarian neoplasms	16753589	CNVD
Deafness	17160897	CNVD
Bipolar disorder	19114987	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	21987784	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	chr22:33576000-33576800	Enhancers	Fetal Brain Female	brain
2	chr22:33576000-33577200	Enhancers	Fetal Brain Male	brain
3	chr22:33576400-33577000	Enhancers	Skeletal Muscle Female	skeletal muscle

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