Variant report

Variant	nsv437405
Chromosome Location	chr4:96734419-96747103
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 172 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:172 , 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	rs11939292	chr4:96734419-96734420	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543780781	chr4:96734421-96734422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185090073	chr4:96734426-96734427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569479548	chr4:96734449-96734450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs11939297	chr4:96734479-96734480	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs141286119	chr4:96734484-96734485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559080323	chr4:96734516-96734517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528293725	chr4:96734521-96734522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548011474	chr4:96734552-96734553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558451592	chr4:96734553-96734554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144798132	chr4:96734563-96734564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530561461	chr4:96734570-96734571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138643454	chr4:96734576-96734577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570359527	chr4:96734577-96734578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs11939406	chr4:96734580-96734581	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs555826551	chr4:96734612-96734613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs11939375	chr4:96734621-96734622	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs114591448	chr4:96734623-96734624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535206976	chr4:96734653-96734654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189554992	chr4:96734655-96734656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs11944198	chr4:96734662-96734663	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs149326343	chr4:96734673-96734674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs11939437	chr4:96734685-96734686	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs183446675	chr4:96734701-96734702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143627910	chr4:96734725-96734726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546042916	chr4:96734735-96734736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs67098102	chr4:96734793-96734794	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs187680949	chr4:96734795-96734796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541615241	chr4:96734836-96734837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs371335534	chr4:96734839-96734840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561599059	chr4:96734855-96734856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192025511	chr4:96734865-96734866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374310125	chr4:96734939-96734940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs183501309	chr4:96734942-96734943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs144837388	chr4:96734985-96734986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs532809871	chr4:96735001-96735002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs6842835	chr4:96735033-96735034	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs566358577	chr4:96735041-96735042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528832807	chr4:96735052-96735053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs548797064	chr4:96735085-96735086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs188558461	chr4:96735146-96735147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs6842701	chr4:96735148-96735149	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs6819943	chr4:96735182-96735183	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs10571414	chr4:96735278-96735279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs56753435	chr4:96735280-96735281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs367774198	chr4:96735301-96735302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs114885695	chr4:96735307-96735308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs148057938	chr4:96735308-96735309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs563752594	chr4:96735331-96735332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs539433980	chr4:96735340-96735341	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Autism	22495311	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
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:96734200-96736200	Enhancers	Adipose Nuclei	Adipose
2	chr4:96735800-96737400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:96736200-96737200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:96742400-96742800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr4:96746600-96747400	Enhancers	Brain Germinal Matrix	brain
6	chr4:96746800-96747200	Enhancers	Cortex derived primary cultured neurospheres	brain

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