Variant report

Variant	esv3346974
Chromosome Location	chr5:42527529-42527958
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:42524054..42526820-chr5:42527657..42530320,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 90 )

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	rs150155448	chr5:42527542-42527543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs79347822	chr5:42527567-42527568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181436706	chr5:42527568-42527569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs17861933	chr5:42527583-42527584	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs558266040	chr5:42527589-42527590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553771811	chr5:42527628-42527629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186913136	chr5:42527634-42527635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570217225	chr5:42527682-42527683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558625325	chr5:42527702-42527703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs76515700	chr5:42527724-42527725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570460963	chr5:42527727-42527728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537884061	chr5:42527758-42527759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372667962	chr5:42527798-42527799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557669266	chr5:42527855-42527856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576032085	chr5:42527869-42527870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11739243	chr5:42527938-42527939	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs554829167	chr5:42527947-42527948	Weak transcription	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
Esophageal adenocarcinoma	19417022	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
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	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	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
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	21364760	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42522200-42527600	Weak transcription	Fetal Lung	lung
2	chr5:42522400-42532000	Weak transcription	Liver	Liver
3	chr5:42524200-42529000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:42525000-42531800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr5:42525400-42531800	Weak transcription	Psoas Muscle	Psoas

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