Variant report

Variant	nsv518267
Chromosome Location	chr4:150777012-150795554
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	chr14:96048737..96049315-chr4:150789320..150789840,2	MCF-7	breast:
2	chr4:150748708..150749209-chr4:150780113..150780775,2	MCF-7	breast:

Extended variants
information (count: 155 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:155 , 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	rs148058331	chr4:150788802-150788803	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs191293257	chr4:150788807-150788808	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs184258335	chr4:150788820-150788821	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs143678265	chr4:150788825-150788826	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs561233034	chr4:150788862-150788863	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs565115175	chr4:150788863-150788864	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs188494690	chr4:150788870-150788871	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs199731073	chr4:150788877-150788878	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs181727060	chr4:150788893-150788894	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs147194533	chr4:150788916-150788917	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs34855679	chr4:150788933-150788934	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs70965200	chr4:150788934-150788935	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs531052405	chr4:150788943-150788944	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs397995771	chr4:150788944-150788945	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs551119780	chr4:150788945-150788946	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs564586885	chr4:150788955-150788956	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs533017928	chr4:150788957-150788958	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs546768931	chr4:150788958-150788959	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs566655620	chr4:150788959-150788960	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs140467779	chr4:150788966-150788967	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs577852543	chr4:150788971-150788972	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs572363842	chr4:150788980-150788981	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs376976174	chr4:150788997-150788998	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs112966679	chr4:150789002-150789003	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs185270839	chr4:150789012-150789013	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs147372124	chr4:150789027-150789028	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs34554413	chr4:150789036-150789037	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs201473617	chr4:150789037-150789038	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs111454719	chr4:150789038-150789039	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs149875683	chr4:150789049-150789050	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs111276661	chr4:150789060-150789061	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs199955014	chr4:150789075-150789076	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs529647548	chr4:150789081-150789082	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs370645126	chr4:150789082-150789083	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs200930349	chr4:150789090-150789091	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs201335618	chr4:150789092-150789093	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs202156816	chr4:150789094-150789095	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs10049531	chr4:150789096-150789097	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs201102894	chr4:150789097-150789098	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs557608951	chr4:150789133-150789134	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs139512990	chr4:150789167-150789168	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs145889259	chr4:150789176-150789177	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs568040489	chr4:150789188-150789189	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs116713359	chr4:150789190-150789191	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs377701632	chr4:150789194-150789195	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs565306539	chr4:150790610-150790611	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs527855725	chr4:150790675-150790676	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs146629539	chr4:150790707-150790708	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs573694733	chr4:150790752-150790753	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs534742562	chr4:150790776-150790777	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:150788800-150789200	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr4:150790600-150790800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:150790800-150792000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:150792000-150792200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:150794600-150799800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr4:150795000-150795200	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
7	chr4:150795200-150806200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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