Variant report

Variant	nsv980528
Chromosome Location	chr4:93478593-93482837
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 164 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:164 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17019565	chr4:93478607-93478608	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs556918246	chr4:93478633-93478634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115069570	chr4:93478635-93478636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10032254	chr4:93478647-93478648	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs576667806	chr4:93478679-93478680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147740697	chr4:93478685-93478686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10020583	chr4:93478719-93478720	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs200750720	chr4:93478742-93478743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140021732	chr4:93478781-93478782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10638716	chr4:93478793-93478794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs57780177	chr4:93478794-93478795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200036526	chr4:93478795-93478796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373854410	chr4:93478796-93478797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541172751	chr4:93478881-93478882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370136959	chr4:93478908-93478909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560908636	chr4:93479011-93479012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530055139	chr4:93479045-93479046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183463547	chr4:93479046-93479047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568792748	chr4:93479080-93479081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531545635	chr4:93479091-93479092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140958704	chr4:93479092-93479093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187558457	chr4:93479107-93479108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533843331	chr4:93479131-93479132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553919653	chr4:93479171-93479172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1450499	chr4:93479180-93479181	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs536232049	chr4:93479193-93479194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559798506	chr4:93479205-93479206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144815716	chr4:93479206-93479207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545426402	chr4:93479246-93479247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1450500	chr4:93479275-93479276	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs80047145	chr4:93479298-93479299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551007751	chr4:93479303-93479304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147917541	chr4:93479370-93479371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185371080	chr4:93479393-93479394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548560684	chr4:93479419-93479420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187974886	chr4:93479423-93479424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563385789	chr4:93479461-93479462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531340706	chr4:93479462-93479463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551394374	chr4:93479480-93479481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571384904	chr4:93479526-93479527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374350791	chr4:93479529-93479530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs17254204	chr4:93479616-93479617	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs192012677	chr4:93479679-93479680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74913896	chr4:93479701-93479702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569762183	chr4:93479775-93479776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572246299	chr4:93479800-93479801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs71599248	chr4:93479801-93479802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556192304	chr4:93479805-93479806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371430575	chr4:93479807-93479808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148852764	chr4:93479853-93479854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	20164920	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:93478000-93493600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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