Variant report

Variant	nsv968066
Chromosome Location	chr4:94083223-94086001
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 106 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573481266	chr4:94083272-94083273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564489562	chr4:94083297-94083298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563837826	chr4:94083360-94083361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182056320	chr4:94083388-94083389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145751475	chr4:94083396-94083397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186038801	chr4:94083406-94083407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529423080	chr4:94083439-94083440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114596131	chr4:94083470-94083471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372417162	chr4:94083471-94083472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140004595	chr4:94083550-94083551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528115190	chr4:94083607-94083608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539828151	chr4:94083608-94083609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375773114	chr4:94083619-94083620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551754378	chr4:94083651-94083652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145202485	chr4:94083700-94083701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79009669	chr4:94083762-94083763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546889219	chr4:94083787-94083788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566701646	chr4:94083872-94083873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562029860	chr4:94083886-94083887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374628934	chr4:94083924-94083925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114900827	chr4:94083979-94083980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190520049	chr4:94083983-94083984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529145156	chr4:94084000-94084001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575298326	chr4:94084029-94084030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537499800	chr4:94084076-94084077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1393804	chr4:94084099-94084100	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs569030780	chr4:94084109-94084110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142214004	chr4:94084121-94084122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560396421	chr4:94084127-94084128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183731680	chr4:94084138-94084139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs56840927	chr4:94084173-94084174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562893045	chr4:94084197-94084198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551951786	chr4:94084207-94084208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531842354	chr4:94084296-94084297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551551170	chr4:94084332-94084333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565303729	chr4:94084414-94084415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114052685	chr4:94084429-94084430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546952498	chr4:94084435-94084436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374422337	chr4:94084439-94084440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566764971	chr4:94084462-94084463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535339896	chr4:94084475-94084476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549166254	chr4:94084480-94084481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186188067	chr4:94084493-94084494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201428577	chr4:94084495-94084496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112936015	chr4:94084503-94084504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368447136	chr4:94084508-94084509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182550924	chr4:94084509-94084510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557408327	chr4:94084520-94084521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577250209	chr4:94084522-94084523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141831139	chr4:94084527-94084528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
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
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	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
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Autism	20841430	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:94070800-94088800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr4:94080600-94101200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr4:94081400-94090000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:94086000-94087000	Enhancers	Fetal Heart	heart

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