Variant report

Variant	esv2754744
Chromosome Location	chr9:105477660-105495928
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 153 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:153 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566376481	chr9:105490609-105490610	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs568039980	chr9:105490626-105490627	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs78175835	chr9:105490628-105490629	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs143248445	chr9:105490631-105490632	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs575157404	chr9:105490667-105490668	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs59027058	chr9:105490739-105490740	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs557504506	chr9:105490751-105490752	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs576943792	chr9:105490764-105490765	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs75153295	chr9:105490806-105490807	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs7860191	chr9:105490808-105490809	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs546494217	chr9:105490812-105490813	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs180719552	chr9:105490857-105490858	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs7859411	chr9:105490886-105490887	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs576711037	chr9:105490951-105490952	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs148873698	chr9:105491033-105491034	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs4742854	chr9:105491037-105491038	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs55664823	chr9:105491038-105491039	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs531182814	chr9:105491080-105491081	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs386736963	chr9:105491097-105491098	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs140859872	chr9:105491098-105491099	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs533551118	chr9:105491103-105491104	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs58742543	chr9:105491129-105491130	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs566556610	chr9:105491130-105491131	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs114422849	chr9:105491132-105491133	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs548525602	chr9:105491154-105491155	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs544374969	chr9:105491187-105491188	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs4742855	chr9:105491202-105491203	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs557618413	chr9:105491203-105491204	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs116193193	chr9:105491207-105491208	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs115282329	chr9:105491268-105491269	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs376779002	chr9:105491269-105491270	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs10820257	chr9:105491290-105491291	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs10118172	chr9:105491297-105491298	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs562033545	chr9:105491320-105491321	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs369323282	chr9:105491358-105491359	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs576023466	chr9:105491359-105491360	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs186025817	chr9:105491403-105491404	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs564744630	chr9:105491430-105491431	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs138266184	chr9:105491448-105491449	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs547160600	chr9:105491449-105491450	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs559996519	chr9:105491460-105491461	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs372613317	chr9:105491472-105491473	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs372065622	chr9:105491506-105491507	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs528955195	chr9:105491570-105491571	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs113679456	chr9:105491574-105491575	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs192176728	chr9:105491587-105491588	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs537429689	chr9:105491588-105491589	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs531444428	chr9:105491611-105491612	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs183303974	chr9:105491620-105491621	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs12337102	chr9:105491624-105491625	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:67)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	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	chr9:105490600-105491800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr9:105491600-105493800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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