Variant report

Variant	nsv594849
Chromosome Location	chr4:92271993-92285150
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 266 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:266 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111522686	chr4:92276410-92276411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370221228	chr4:92276462-92276463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183854388	chr4:92276479-92276480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188350527	chr4:92276521-92276522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536418795	chr4:92276542-92276543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142779186	chr4:92276552-92276553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527969231	chr4:92276553-92276554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576812421	chr4:92276577-92276578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs13109570	chr4:92276589-92276590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs13109571	chr4:92276590-92276591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190344035	chr4:92276638-92276639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561339526	chr4:92276658-92276659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371960159	chr4:92276676-92276677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183249583	chr4:92276695-92276696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs13134724	chr4:92276716-92276717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs13109949	chr4:92276717-92276718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368999054	chr4:92276755-92276756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570089259	chr4:92276756-92276757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187638527	chr4:92276769-92276770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111721240	chr4:92276770-92276771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191344883	chr4:92276772-92276773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553996701	chr4:92276776-92276777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567354227	chr4:92276778-92276779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536447059	chr4:92276787-92276788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537149683	chr4:92276833-92276834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556423995	chr4:92276834-92276835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576597941	chr4:92276841-92276842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112448541	chr4:92276842-92276843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559015158	chr4:92276859-92276860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559049354	chr4:92276910-92276911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572437938	chr4:92276917-92276918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139104117	chr4:92276935-92276936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561581723	chr4:92276980-92276981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576083361	chr4:92276983-92276984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113278170	chr4:92277009-92277010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543985973	chr4:92277024-92277025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576812551	chr4:92277072-92277073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562275683	chr4:92277078-92277079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs28816531	chr4:92277105-92277106	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs551031186	chr4:92277116-92277117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144693270	chr4:92277132-92277133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111615070	chr4:92277142-92277143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547425353	chr4:92277158-92277159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183575389	chr4:92277159-92277160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188373870	chr4:92277196-92277197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536094118	chr4:92277199-92277200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112626354	chr4:92277225-92277226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368455453	chr4:92277270-92277271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192693201	chr4:92277272-92277273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185446571	chr4:92277324-92277325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Obesity	20622171	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Esophageal cancer	21851588	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:92276400-92279800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:92279800-92280200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:92279800-92280200	Enhancers	Pancreas	Pancrea
4	chr4:92279800-92281000	Enhancers	Rectal Mucosa Donor 31	rectum

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