Variant report

Variant	esv3523369
Chromosome Location	chr9:105162382-105162774
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4549841	chr9:105162396-105162397	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs559299084	chr9:105162402-105162403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528076977	chr9:105162414-105162415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2900332	chr9:105162420-105162421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73659034	chr9:105162432-105162433	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs187189352	chr9:105162470-105162471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374248376	chr9:105162490-105162491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376189216	chr9:105162493-105162494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530696258	chr9:105162500-105162501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs201905124	chr9:105162504-105162505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs200878623	chr9:105162505-105162506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564807880	chr9:105162516-105162517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369361172	chr9:105162521-105162522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372802543	chr9:105162524-105162525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375852198	chr9:105162531-105162532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs367552828	chr9:105162532-105162533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531942053	chr9:105162544-105162545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs58996176	chr9:105162546-105162547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550403610	chr9:105162618-105162619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568527367	chr9:105162630-105162631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550770697	chr9:105162644-105162645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs116116298	chr9:105162668-105162669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557209636	chr9:105162671-105162672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570692181	chr9:105162681-105162682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs7863698	chr9:105162733-105162734	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Mantle cell lymphoma	19029149	CNVD
Intracranial aneurysm	16715129	CNVD
Neuroblastoma	20406844	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:105161800-105163000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:105162200-105163000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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