Variant report

Variant	nsv519372
Chromosome Location	chr4:125318885-125324957
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139911857	chr4:125320421-125320422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs557940873	chr4:125320492-125320493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576313620	chr4:125320537-125320538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187954348	chr4:125320538-125320539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149795901	chr4:125320554-125320555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144757826	chr4:125320565-125320566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192423323	chr4:125320580-125320581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs17008117	chr4:125320611-125320612	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs376659913	chr4:125320658-125320659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533207385	chr4:125320685-125320686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs11098757	chr4:125320696-125320697	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs550931876	chr4:125320697-125320698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563527914	chr4:125320747-125320748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185293649	chr4:125320754-125320755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549628067	chr4:125320762-125320763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567901235	chr4:125320791-125320792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528799504	chr4:125320807-125320808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569886470	chr4:125320817-125320818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190154431	chr4:125320865-125320866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs114067882	chr4:125320876-125320877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539500393	chr4:125320897-125320898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs563539821	chr4:125320948-125320949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs56364358	chr4:125320955-125320956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs536877678	chr4:125320974-125320975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530953590	chr4:125321075-125321076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs555552450	chr4:125321131-125321132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs368710172	chr4:125321147-125321148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs573823941	chr4:125321154-125321155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs148534647	chr4:125321183-125321184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs145327692	chr4:125321190-125321191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181874732	chr4:125321198-125321199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs72678434	chr4:125321206-125321207	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs563467570	chr4:125321216-125321217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565492190	chr4:125321219-125321220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs530991002	chr4:125321220-125321221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs542822229	chr4:125321227-125321228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs184889039	chr4:125321260-125321261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs189785597	chr4:125321285-125321286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs180914021	chr4:125321316-125321317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs559382795	chr4:125321355-125321356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs184979736	chr4:125321379-125321380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs577565296	chr4:125322620-125322621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544929447	chr4:125322669-125322670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563127218	chr4:125322681-125322682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs535047361	chr4:125322721-125322722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs530575145	chr4:125322758-125322759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs200607458	chr4:125322778-125322779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs182371807	chr4:125322841-125322842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs72919197	chr4:125322851-125322852	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs192546218	chr4:125322857-125322858	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Myelodysplastic syndrome	21251322	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
Developmental delay	21147756	CNVD
Renal cell carcinoma	18765545	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myelofibrosis	22110671	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute promyelocytic leukemia	19109227	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125320400-125321000	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr4:125320400-125321200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr4:125320400-125321400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr4:125320800-125321200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr4:125322600-125323600	Enhancers	HUVEC	blood vessel

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