Variant report

Variant	nsv968114
Chromosome Location	chr5:119301753-119302754
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571904023	chr5:119301754-119301755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs4073706	chr5:119301756-119301757	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs543030634	chr5:119301765-119301766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185503066	chr5:119301810-119301811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567632843	chr5:119301838-119301839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536261777	chr5:119301843-119301844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs9885349	chr5:119301867-119301868	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs569851708	chr5:119301881-119301882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs148521799	chr5:119301913-119301914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558305820	chr5:119301916-119301917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571930830	chr5:119301920-119301921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540688638	chr5:119301923-119301924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554253297	chr5:119301963-119301964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190345558	chr5:119301978-119301979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs4073709	chr5:119302004-119302005	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs6873107	chr5:119302040-119302041	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs531897160	chr5:119302065-119302066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs9885058	chr5:119302073-119302074	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs565451740	chr5:119302077-119302078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs527904449	chr5:119302081-119302082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs547872880	chr5:119302091-119302092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs13354856	chr5:119302130-119302131	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs182177209	chr5:119302135-119302136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549901228	chr5:119302181-119302182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs13359366	chr5:119302215-119302216	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs185082969	chr5:119302253-119302254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563615774	chr5:119302277-119302278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552067904	chr5:119302297-119302298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs116775850	chr5:119302316-119302317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs534511970	chr5:119302321-119302322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554390341	chr5:119302323-119302324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574439104	chr5:119302338-119302339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188809807	chr5:119302381-119302382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556663172	chr5:119302391-119302392	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119301200-119302400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr5:119302000-119302400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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