Variant report

Variant	esv3375999
Chromosome Location	chr5:99827878-99830426
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189910309	chr5:99829807-99829808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs180763557	chr5:99829911-99829912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530268178	chr5:99829969-99829970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575977764	chr5:99830001-99830002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186103618	chr5:99830041-99830042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs60900937	chr5:99830045-99830046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557467854	chr5:99830060-99830061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560257846	chr5:99830080-99830081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541140984	chr5:99830087-99830088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs368426222	chr5:99830088-99830089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144653327	chr5:99830135-99830136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552016041	chr5:99830145-99830146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs2370521	chr5:99830159-99830160	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs113732951	chr5:99830189-99830190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531250666	chr5:99830253-99830254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549624554	chr5:99830265-99830266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369215033	chr5:99830279-99830280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535237881	chr5:99830304-99830305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553534044	chr5:99830337-99830338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191826729	chr5:99830343-99830344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112474082	chr5:99830363-99830364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145531845	chr5:99830425-99830426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	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
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:99829800-99830200	Enhancers	Fetal Lung	lung
2	chr5:99830200-99830600	Weak transcription	Fetal Lung	lung

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