Variant report

Variant	esv3470643
Chromosome Location	chr5:113995780-113996238
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 76 )

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	rs527428598	chr5:113995822-113995823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs148356864	chr5:113995823-113995824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372210844	chr5:113995827-113995828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531336904	chr5:113995844-113995845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550949162	chr5:113995845-113995846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569589662	chr5:113995849-113995850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540013927	chr5:113995850-113995851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534672306	chr5:113995866-113995867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376672220	chr5:113995873-113995874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375740994	chr5:113995876-113995877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189874067	chr5:113995890-113995891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574438351	chr5:113995923-113995924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534074366	chr5:113995984-113995985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115004565	chr5:113995988-113995989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373418132	chr5:113995992-113995993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141179379	chr5:113996034-113996035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73249799	chr5:113996065-113996066	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs539761134	chr5:113996069-113996070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577542488	chr5:113996105-113996106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113217713	chr5:113996134-113996135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545847675	chr5:113996137-113996138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559953768	chr5:113996144-113996145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377577265	chr5:113996195-113996196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Retinoblastoma	22278416	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	16774939	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:113994800-113996800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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