Variant report

Variant	esv3415119
Chromosome Location	chr5:120170753-120175751
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555271466	chr5:120175206-120175207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs576756358	chr5:120175239-120175240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143514709	chr5:120175269-120175270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs118005593	chr5:120175291-120175292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs368908721	chr5:120175298-120175299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545131682	chr5:120175307-120175308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563324448	chr5:120175328-120175329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530648263	chr5:120175335-120175336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548092237	chr5:120175342-120175343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs4895169	chr5:120175344-120175345	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs530643241	chr5:120175359-120175360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs4895170	chr5:120175361-120175362	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs570544623	chr5:120175391-120175392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528379566	chr5:120175434-120175435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs573140686	chr5:120175446-120175447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs4895285	chr5:120175459-120175460	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs373145922	chr5:120175468-120175469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185271285	chr5:120175476-120175477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530268053	chr5:120175477-120175478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557456250	chr5:120175496-120175497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73263347	chr5:120175538-120175539	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs536806805	chr5:120175631-120175632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs115725735	chr5:120175649-120175650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546575626	chr5:120175660-120175661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs148414182	chr5:120175665-120175666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs142562408	chr5:120175670-120175671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552688146	chr5:120175677-120175678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536912653	chr5:120175694-120175695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs554867933	chr5:120175727-120175728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs79349949	chr5:120175747-120175748	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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:120175200-120176000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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