Variant report

Variant	nsv963595
Chromosome Location	chr4:27695129-27696719
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149824608	chr4:27695129-27695130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs186002246	chr4:27695132-27695133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs144969981	chr4:27695133-27695134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs149048659	chr4:27695153-27695154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143029112	chr4:27695171-27695172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558442486	chr4:27695201-27695202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572167542	chr4:27695214-27695215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191556499	chr4:27695223-27695224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576699885	chr4:27695252-27695253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182823316	chr4:27695255-27695256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114838516	chr4:27695261-27695262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544204877	chr4:27695298-27695299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563565353	chr4:27695324-27695325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs116816642	chr4:27695381-27695382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187942862	chr4:27695384-27695385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568164922	chr4:27695388-27695389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs527772925	chr4:27695418-27695419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73805860	chr4:27695504-27695505	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs719713	chr4:27695557-27695558	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs79629504	chr4:27695570-27695571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs371867467	chr4:27695584-27695585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570340355	chr4:27695585-27695586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536199421	chr4:27695595-27695596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs35124448	chr4:27696216-27696217	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs192413877	chr4:27696288-27696289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs141456443	chr4:27696296-27696297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534578276	chr4:27696307-27696308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557503111	chr4:27696337-27696338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs369517274	chr4:27696344-27696345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs79438946	chr4:27696349-27696350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530176125	chr4:27696374-27696375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs369609615	chr4:27696396-27696397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs11723101	chr4:27696416-27696417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs147019590	chr4:27696433-27696434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs542420079	chr4:27696455-27696456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs559197338	chr4:27696588-27696589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573795310	chr4:27696616-27696617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs116192905	chr4:27696617-27696618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs1449768	chr4:27696632-27696633	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs34148021	chr4:27696657-27696658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs184463730	chr4:27696662-27696663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs386672809	chr4:27696698-27696699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1449767	chr4:27696700-27696701	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Cancer	22183965	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:27694000-27695600	Enhancers	Placenta Amnion	Placenta Amnion
2	chr4:27695000-27695200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:27696200-27696800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:27696200-27696800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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