Variant report

Variant	esv3358764
Chromosome Location	chr5:45554343-45554815
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73103047	chr5:45554343-45554344	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539639632	chr5:45554385-45554386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568753596	chr5:45554413-45554414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7717729	chr5:45554440-45554441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192092556	chr5:45554549-45554550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558267782	chr5:45554594-45554595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567692935	chr5:45554668-45554669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533802102	chr5:45554676-45554677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557403377	chr5:45554700-45554701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557966461	chr5:45554739-45554740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs138778053	chr5:45554747-45554748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs74962453	chr5:45554749-45554750	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
Medulloblastoma	21979893	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
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	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
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hirschsprung''s Disease	21712996	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:45553000-45555200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:45553000-45555800	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr5:45553200-45554400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr5:45553400-45554400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr5:45553400-45554400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr5:45554400-45554800	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr5:45554400-45555000	Enhancers	H1 Cell Line	embryonic stem cell
8	chr5:45554400-45555400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr5:45554400-45555600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr5:45554400-45555800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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