Variant report

Variant	nsv823193
Chromosome Location	chr5:119377835-119378336
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187230619	chr5:119377866-119377867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs191680441	chr5:119377881-119377882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375573242	chr5:119377892-119377893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4895222	chr5:119377900-119377901	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs183784522	chr5:119377901-119377902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558536958	chr5:119377908-119377909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs386691708	chr5:119377927-119377928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4895224	chr5:119377931-119377932	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs555303133	chr5:119377936-119377937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188127483	chr5:119377947-119377948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs180826290	chr5:119378013-119378014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139097236	chr5:119378022-119378023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374481482	chr5:119378030-119378031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4895225	chr5:119378043-119378044	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs533285504	chr5:119378081-119378082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs4895226	chr5:119378087-119378088	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs185878430	chr5:119378102-119378103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149812194	chr5:119378125-119378126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4895227	chr5:119378146-119378147	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs568843839	chr5:119378183-119378184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555132325	chr5:119378294-119378295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6863946	chr5:119378304-119378305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146378382	chr5:119378308-119378309	Weak transcription	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	chr5:119376000-119378600	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr5:119376000-119379200	Weak transcription	Primary neutrophils fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links