Variant report

Variant	esv3426453
Chromosome Location	chr5:17746279-17746555
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372739107	chr5:17746309-17746310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs17560840	chr5:17746329-17746330	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs538772902	chr5:17746330-17746331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368501829	chr5:17746338-17746339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs11332435	chr5:17746352-17746353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146901433	chr5:17746353-17746354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201889551	chr5:17746370-17746371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147627082	chr5:17746372-17746373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549251435	chr5:17746404-17746405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78274026	chr5:17746406-17746407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149083708	chr5:17746481-17746482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189070682	chr5:17746483-17746484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546036438	chr5:17746509-17746510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74733142	chr5:17746517-17746518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554968058	chr5:17746528-17746529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575037621	chr5:17746547-17746548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540561772	chr5:17746552-17746553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	21364760	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Myoepithelioma	18604193	CNVD
Lung cancer	16740712	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Melanoma	22183965	CNVD
Renal cell carcinoma	18194544	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17744400-17748400	Weak transcription	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links