Variant report

Variant	esv3361814
Chromosome Location	chr5:114739334-114739772
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184156404	chr5:114739344-114739345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs568756070	chr5:114739347-114739348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112187205	chr5:114739349-114739350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556097796	chr5:114739364-114739365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2260998	chr5:114739378-114739379	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs142332041	chr5:114739437-114739438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2260996	chr5:114739461-114739462	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs540807837	chr5:114739462-114739463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs75258057	chr5:114739483-114739484	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74630380	chr5:114739488-114739489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559242565	chr5:114739492-114739493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145718038	chr5:114739520-114739521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563651323	chr5:114739524-114739525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186740940	chr5:114739530-114739531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs150951854	chr5:114739535-114739536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191591556	chr5:114739589-114739590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148996626	chr5:114739611-114739612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559883185	chr5:114739632-114739633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs369268580	chr5:114739633-114739634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs7718052	chr5:114739651-114739652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184175643	chr5:114739682-114739683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376294847	chr5:114739706-114739707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs368550582	chr5:114739709-114739710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs201765889	chr5:114739720-114739721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs199795946	chr5:114739721-114739722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs200629748	chr5:114739722-114739723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550586362	chr5:114739729-114739730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs568792848	chr5:114739742-114739743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
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
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
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114737800-114739400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:114737800-114739400	Enhancers	NHDF-Ad	bronchial
3	chr5:114737800-114739800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:114738000-114739400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:114738600-114739400	Enhancers	NH-A	brain
6	chr5:114738600-114739600	Weak transcription	Ovary	ovary
7	chr5:114738800-114739600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:114738800-114739600	Enhancers	Osteobl	bone
9	chr5:114739000-114739400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr5:114739200-114739400	Enhancers	Aorta	Aorta
11	chr5:114739200-114739400	Enhancers	Lung	lung
12	chr5:114739600-114739800	Enhancers	Ovary	ovary
13	chr5:114739600-114741200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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