Variant report

Variant	esv1973400
Chromosome Location	chr5:119969276-119969655
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182327508	chr5:119969298-119969299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs114361178	chr5:119969302-119969303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187358155	chr5:119969305-119969306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555599815	chr5:119969315-119969316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562242675	chr5:119969318-119969319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113320433	chr5:119969319-119969320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575465596	chr5:119969364-119969365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555505998	chr5:119969372-119969373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190638541	chr5:119969390-119969391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139328149	chr5:119969393-119969394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372539450	chr5:119969396-119969397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs70985231	chr5:119969442-119969443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577590096	chr5:119969459-119969460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs56351243	chr5:119969462-119969463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368809619	chr5:119969474-119969475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372709630	chr5:119969475-119969476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs56382571	chr5:119969488-119969489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1378263	chr5:119969532-119969533	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs528775022	chr5:119969565-119969566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542069602	chr5:119969609-119969610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561953617	chr5:119969635-119969636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1823929	chr5:119969636-119969637	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs1823928	chr5:119969647-119969648	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:73)

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
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
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	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
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119953000-119970600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:119953000-120021800	Weak transcription	HSMMtube	muscle
3	chr5:119960800-119979600	Weak transcription	Osteobl	bone
4	chr5:119962200-119980400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr5:119963400-119969600	Weak transcription	NHDF-Ad	bronchial
6	chr5:119963800-119976400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr5:119964200-119976600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:119967600-119969600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:119967800-119976400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr5:119967800-119978000	Weak transcription	HSMM	muscle
11	chr5:119967800-119979200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:119967800-120012800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:119968000-119973800	Weak transcription	Fetal Lung	lung

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