Variant report

Variant	esv2039234
Chromosome Location	chr5:114990519-114990828
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13174037	chr5:114990521-114990522	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs376986287	chr5:114990542-114990543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369840846	chr5:114990553-114990554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372934252	chr5:114990575-114990576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373403605	chr5:114990580-114990581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs62371249	chr5:114990583-114990584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs62371250	chr5:114990588-114990589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs59359530	chr5:114990591-114990592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs62371252	chr5:114990600-114990601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs62371253	chr5:114990607-114990608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs62371254	chr5:114990609-114990610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373184659	chr5:114990612-114990613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559788368	chr5:114990615-114990616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373783074	chr5:114990620-114990621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs58358595	chr5:114990623-114990624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs57671575	chr5:114990636-114990637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568525936	chr5:114990639-114990640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112336091	chr5:114990645-114990646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs59236677	chr5:114990647-114990648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537277665	chr5:114990681-114990682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551153010	chr5:114990690-114990691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570852325	chr5:114990701-114990702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs386691403	chr5:114990702-114990703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs58252413	chr5:114990703-114990704	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs553202818	chr5:114990719-114990720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs61688364	chr5:114990728-114990729	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs61516811	chr5:114990737-114990738	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs533886162	chr5:114990744-114990745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181592013	chr5:114990764-114990765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543298625	chr5:114990766-114990767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs61528762	chr5:114990776-114990777	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs577067158	chr5:114990812-114990813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs76168978	chr5:114990821-114990822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185706712	chr5:114990825-114990826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112884506	chr5:114990826-114990827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114985800-114992200	Weak transcription	NH-A	brain
2	chr5:114986000-114992000	Weak transcription	Muscle Satellite Cultured Cells	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links