Variant report

Variant	esv1794043
Chromosome Location	chr5:28730106-28732579
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2433288	chr5:28730106-28730107	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs547552621	chr5:28730157-28730158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs5866891	chr5:28730251-28730252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs397814654	chr5:28730258-28730259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531504459	chr5:28730281-28730282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549690104	chr5:28730350-28730351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs62357664	chr5:28730360-28730361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189770343	chr5:28730363-28730364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532265599	chr5:28730403-28730404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547335896	chr5:28730462-28730463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181082660	chr5:28730539-28730540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs139298993	chr5:28730594-28730595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566317795	chr5:28732053-28732054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs536542521	chr5:28732073-28732074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs141868496	chr5:28732105-28732106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576320141	chr5:28732118-28732119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2548006	chr5:28732126-28732127	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs187867502	chr5:28732149-28732150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577284039	chr5:28732198-28732199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558602043	chr5:28732275-28732276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs576907341	chr5:28732291-28732292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541165423	chr5:28732348-28732349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs34526408	chr5:28732361-28732362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs559115443	chr5:28732381-28732382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs193041498	chr5:28732385-28732386	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18194544	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Compulsive disorder	18923513	CNVD
Epilepsy	18923513	CNVD
Prader-willi syndrome	18923513	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:28729400-28730600	Enhancers	Liver	Liver
2	chr5:28732000-28732400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links