Variant report

Variant	nsv293151
Chromosome Location	chr4:131043267-131043951
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs66648806	chr4:131043281-131043282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs369305946	chr4:131043282-131043283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141645473	chr4:131043320-131043321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs72678159	chr4:131043362-131043363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374197341	chr4:131043384-131043385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138050318	chr4:131043404-131043405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138654590	chr4:131043408-131043409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540343053	chr4:131043454-131043455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs117834551	chr4:131043500-131043501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113213865	chr4:131043548-131043549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76785518	chr4:131043572-131043573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs74838122	chr4:131043573-131043574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75342644	chr4:131043574-131043575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs79596843	chr4:131043575-131043576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542525984	chr4:131043592-131043593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560796886	chr4:131043665-131043666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527860696	chr4:131043668-131043669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187990823	chr4:131043675-131043676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564376803	chr4:131043696-131043697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531829367	chr4:131043698-131043699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs55822013	chr4:131043735-131043736	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs12186169	chr4:131043773-131043774	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs373797863	chr4:131043783-131043784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573143040	chr4:131043810-131043811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192614313	chr4:131043812-131043813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184838948	chr4:131043888-131043889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565651292	chr4:131043922-131043923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539220344	chr4:131043923-131043924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557759333	chr4:131043941-131043942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs67788337	chr4:131043942-131043943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375746944	chr4:131043944-131043945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs66529646	chr4:131043945-131043946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs66807703	chr4:131043948-131043949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs367543750	chr4:131043950-131043951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs67709217	chr4:131043951-131043952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Colorectal cancer	20459617	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung squamous cell carcinoma	22363434	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:131032800-131052200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:131036000-131046800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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