Variant report

Variant	nsv968784
Chromosome Location	chr4:133708916-133724482
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	chr4:133699714..133704112-chr4:133706200..133709906,4	MCF-7	breast:

Extended variants
information (count: 60 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112525090	chr4:133709732-133709733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs550303582	chr4:133709774-133709775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114144756	chr4:133709814-133709815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs74505332	chr4:133709831-133709832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371324040	chr4:133709844-133709845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532391303	chr4:133709921-133709922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571347002	chr4:133709948-133709949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs116690509	chr4:133709975-133709976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572533165	chr4:133709977-133709978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551158375	chr4:133709978-133709979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73856552	chr4:133709986-133709987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs141576757	chr4:133709987-133709988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543867296	chr4:133714212-133714213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561927261	chr4:133714213-133714214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs150206426	chr4:133714217-133714218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs368226400	chr4:133714233-133714234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs75078815	chr4:133714239-133714240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs6828006	chr4:133714312-133714313	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs6828010	chr4:133714317-133714318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs539080397	chr4:133714432-133714433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs77927681	chr4:133714437-133714438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs9996230	chr4:133714445-133714446	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs182826238	chr4:133714452-133714453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs138902951	chr4:133714458-133714459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs74288020	chr4:133714471-133714472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535005009	chr4:133714474-133714475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs62314233	chr4:133714517-133714518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs558472710	chr4:133714571-133714572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs143173113	chr4:133714611-133714612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs187553773	chr4:133714633-133714634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs369038895	chr4:133714636-133714637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs557405691	chr4:133714661-133714662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs35776149	chr4:133714683-133714684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs75235616	chr4:133714708-133714709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147122862	chr4:133714710-133714711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs561727888	chr4:133714711-133714712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544910143	chr4:133714734-133714735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs10008503	chr4:133714781-133714782	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs573502448	chr4:133714783-133714784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs138526764	chr4:133714803-133714804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs564065919	chr4:133714843-133714844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs80180351	chr4:133714882-133714883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs62312064	chr4:133714919-133714920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs191148269	chr4:133714978-133714979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs386679667	chr4:133714979-133714980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs528935437	chr4:133714990-133714991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs574417168	chr4:133719002-133719003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs141780581	chr4:133719004-133719005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs75002957	chr4:133719056-133719057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs375432007	chr4:133719105-133719106	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
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
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
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
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
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Mental retardation	17901693	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:133709600-133710000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:133714200-133715000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr4:133719000-133719400	Enhancers	HUES64 Cell Line	embryonic stem cell

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