Variant report

Variant	nsv980508
Chromosome Location	chr4:91262892-91268357
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 215 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:215 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144305615	chr4:91262904-91262905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542205949	chr4:91262940-91262941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562082949	chr4:91262969-91262970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs59015140	chr4:91263051-91263052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544748859	chr4:91263103-91263104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577244342	chr4:91263136-91263137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373070422	chr4:91263167-91263168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564510800	chr4:91263176-91263177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533618087	chr4:91263180-91263181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74534594	chr4:91263190-91263191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560795843	chr4:91263235-91263236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529557095	chr4:91263245-91263246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185095865	chr4:91263292-91263293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567745647	chr4:91263295-91263296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536732119	chr4:91263298-91263299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550302878	chr4:91263308-91263309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189610193	chr4:91263309-91263310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115983118	chr4:91263312-91263313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552902786	chr4:91263315-91263316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs72881642	chr4:91263330-91263331	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs535773629	chr4:91263334-91263335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139429383	chr4:91263344-91263345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555779315	chr4:91263412-91263413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181332591	chr4:91263449-91263450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77133862	chr4:91263460-91263461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186709100	chr4:91263462-91263463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs578039349	chr4:91263478-91263479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6827827	chr4:91263496-91263497	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs191168168	chr4:91263541-91263542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575039198	chr4:91263546-91263547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375000085	chr4:91263556-91263557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576140975	chr4:91263560-91263561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370784591	chr4:91263567-91263568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377393104	chr4:91263633-91263634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549300037	chr4:91263638-91263639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6853817	chr4:91263716-91263717	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs183820796	chr4:91263742-91263743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115616748	chr4:91263760-91263761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570487238	chr4:91263778-91263779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539177339	chr4:91263783-91263784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546748298	chr4:91263796-91263797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149962557	chr4:91263816-91263817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs13141689	chr4:91263881-91263882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185928767	chr4:91263890-91263891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575610416	chr4:91263912-91263913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538199528	chr4:91263922-91263923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557881118	chr4:91263935-91263936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370695067	chr4:91263947-91263948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540398517	chr4:91263962-91263963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554327473	chr4:91263965-91263966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Multiple myeloma	17550852	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

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:91244600-91270200	Weak transcription	Pancreas	Pancrea
2	chr4:91258600-91274800	Weak transcription	Left Ventricle	heart
3	chr4:91260400-91263600	Weak transcription	Psoas Muscle	Psoas
4	chr4:91266600-91267400	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr4:91266600-91267600	Enhancers	Primary hematopoietic stem cells	blood
6	chr4:91266800-91267400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:91267000-91267400	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr4:91267000-91267400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr4:91267400-91270400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr4:91267400-91270600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr4:91267400-91270600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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