Variant report

Variant	nsv964001
Chromosome Location	chr4:150843184-150848332
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:150835279..150836290-chr4:150844620..150845340,3	MCF-7	breast:

Extended variants
information (count: 107 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145350146	chr4:150843187-150843188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs74839736	chr4:150843241-150843242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531323214	chr4:150843243-150843244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551216814	chr4:150843244-150843245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187264167	chr4:150843245-150843246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191714954	chr4:150843329-150843330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527362304	chr4:150843398-150843399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543880248	chr4:150843407-150843408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545534514	chr4:150843415-150843416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75794569	chr4:150843455-150843456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549248793	chr4:150843480-150843481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113301562	chr4:150843483-150843484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529634421	chr4:150843498-150843499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142288383	chr4:150843509-150843510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557830045	chr4:150843520-150843521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146096557	chr4:150843530-150843531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148253716	chr4:150843588-150843589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs72967474	chr4:150843597-150843598	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs573873707	chr4:150843631-150843632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534575352	chr4:150843659-150843660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557378631	chr4:150843683-150843684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575572338	chr4:150843687-150843688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142453798	chr4:150843702-150843703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576230117	chr4:150843714-150843715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545005818	chr4:150843722-150843723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564685621	chr4:150843736-150843737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527431616	chr4:150843754-150843755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549363138	chr4:150843765-150843766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75002830	chr4:150843839-150843840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78080613	chr4:150843840-150843841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577518333	chr4:150843847-150843848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140279938	chr4:150843856-150843857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs367991867	chr4:150843904-150843905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184031438	chr4:150843954-150843955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542909486	chr4:150843975-150843976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371118836	chr4:150843981-150843982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569547783	chr4:150843982-150843983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111546369	chr4:150844007-150844008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560576803	chr4:150844021-150844022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189156405	chr4:150844034-150844035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571550573	chr4:150844126-150844127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534333316	chr4:150844142-150844143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572166965	chr4:150844165-150844166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs137981168	chr4:150844180-150844181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112565049	chr4:150844187-150844188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs72967477	chr4:150844200-150844201	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs576296037	chr4:150844209-150844210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115647433	chr4:150844231-150844232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558563310	chr4:150844254-150844255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527907999	chr4:150844271-150844272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:150841600-150845000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr4:150845200-150845400	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr4:150847600-150848400	Enhancers	Rectal Smooth Muscle	rectum
4	chr4:150848200-150850200	Enhancers	Rectal Mucosa Donor 31	rectum

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