Variant report

Variant	esv3374274
Chromosome Location	chr9:17117977-17120725
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 158 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:158 , 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	rs570877138	chr9:17117977-17117978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138281553	chr9:17117985-17117986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs16935340	chr9:17118007-17118008	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs552131117	chr9:17118042-17118043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568464310	chr9:17118052-17118053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536581503	chr9:17118067-17118068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554890817	chr9:17118088-17118089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570366090	chr9:17118118-17118119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189449452	chr9:17118127-17118128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537199537	chr9:17118150-17118151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558377140	chr9:17118166-17118167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534684417	chr9:17118170-17118171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576908975	chr9:17118223-17118224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540723747	chr9:17118257-17118258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs180993293	chr9:17118259-17118260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149624181	chr9:17118298-17118299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546378874	chr9:17118326-17118327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116293632	chr9:17118357-17118358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563981223	chr9:17118403-17118404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531014507	chr9:17118412-17118413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535264439	chr9:17118420-17118421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546338752	chr9:17118434-17118435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs117748898	chr9:17118465-17118466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528646130	chr9:17118478-17118479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547095560	chr9:17118479-17118480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570105635	chr9:17118484-17118485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115323573	chr9:17118485-17118486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535635818	chr9:17118541-17118542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529273348	chr9:17118615-17118616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548504240	chr9:17118622-17118623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569888264	chr9:17118631-17118632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372123425	chr9:17118659-17118660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558761562	chr9:17118687-17118688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184113435	chr9:17118743-17118744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529466043	chr9:17118744-17118745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373802899	chr9:17118774-17118775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188739760	chr9:17118783-17118784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541379745	chr9:17118789-17118790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557380645	chr9:17118799-17118800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575934506	chr9:17118916-17118917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546177409	chr9:17118944-17118945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181512716	chr9:17118994-17118995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373927782	chr9:17119001-17119002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111455668	chr9:17119021-17119022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs28624544	chr9:17119029-17119030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201452764	chr9:17119034-17119035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs67908921	chr9:17119035-17119036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141644792	chr9:17119041-17119042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12377998	chr9:17119042-17119043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12378001	chr9:17119080-17119081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21364760	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17117000-17118000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr9:17117800-17119600	Weak transcription	Liver	Liver
3	chr9:17119600-17121000	Enhancers	Liver	Liver

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