Variant report

Variant	nsv823217
Chromosome Location	chr5:127954386-127957094
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556096126	chr5:127954825-127954826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs111698239	chr5:127954836-127954837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs370137384	chr5:127954888-127954889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373727064	chr5:127954893-127954894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147450666	chr5:127954894-127954895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs541406790	chr5:127954911-127954912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573926624	chr5:127954933-127954934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534690254	chr5:127954994-127954995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543012945	chr5:127954999-127955000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557913134	chr5:127955055-127955056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375619245	chr5:127955081-127955082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs114843666	chr5:127955094-127955095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs62392590	chr5:127955124-127955125	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs576563628	chr5:127955131-127955132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562309784	chr5:127955147-127955148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs531426460	chr5:127955157-127955158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs114370078	chr5:127955171-127955172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561657963	chr5:127955173-127955174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372849287	chr5:127955199-127955200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs527631503	chr5:127955212-127955213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs547367476	chr5:127955214-127955215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187880992	chr5:127955235-127955236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs192355344	chr5:127955263-127955264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs9885266	chr5:127955296-127955297	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs570213253	chr5:127955321-127955322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543387566	chr5:127955358-127955359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564124708	chr5:127955360-127955361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs76974052	chr5:127955361-127955362	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
29	rs549637463	chr5:127955381-127955382	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127954800-127955400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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