Variant report

Variant	nsv1016235
Chromosome Location	chr9:10287340-10322351
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:10308495..10311359-chr9:10312651..10315180,2	K562	blood:
2	chr9:10308495..10311359-chr9:10312651..10315180,2	K562	blood:

Extended variants
information (count: 128 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572075301	chr9:10289222-10289223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534714224	chr9:10289267-10289268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114641056	chr9:10289294-10289295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577777480	chr9:10289297-10289298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543613660	chr9:10289341-10289342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563589651	chr9:10289352-10289353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572394176	chr9:10289361-10289362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573966792	chr9:10289382-10289383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548201297	chr9:10289411-10289412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs373797424	chr9:10289438-10289439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543070410	chr9:10289460-10289461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183523740	chr9:10289462-10289463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528617483	chr9:10289495-10289496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs77033824	chr9:10289499-10289500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs565184338	chr9:10289509-10289510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs531035104	chr9:10289542-10289543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs550730706	chr9:10289554-10289555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567655546	chr9:10289558-10289559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs371750528	chr9:10289562-10289563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568927163	chr9:10289568-10289569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565662459	chr9:10289571-10289572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541113485	chr9:10289573-10289574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538222936	chr9:10289598-10289599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557837748	chr9:10289621-10289622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs144750065	chr9:10289629-10289630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537277038	chr9:10289636-10289637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs557171136	chr9:10289698-10289699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574030548	chr9:10289743-10289744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs59323016	chr9:10289748-10289749	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs552948158	chr9:10289786-10289787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs578257797	chr9:10289799-10289800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs557998827	chr9:10289812-10289813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573191017	chr9:10289815-10289816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs545049305	chr9:10289821-10289822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs151246977	chr9:10289856-10289857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs16925729	chr9:10289874-10289875	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs140467203	chr9:10289881-10289882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs561143606	chr9:10289897-10289898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs74629396	chr9:10289925-10289926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs578047254	chr9:10289938-10289939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs16925732	chr9:10289945-10289946	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs528104580	chr9:10289989-10289990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs150404685	chr9:10289998-10289999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs571392669	chr9:10290014-10290015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs537138721	chr9:10290042-10290043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs880634	chr9:10290056-10290057	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs567476255	chr9:10290065-10290066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs536010080	chr9:10290067-10290068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs369995425	chr9:10290093-10290094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs188169452	chr9:10290118-10290119	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:117)

Disease	PMID	Source
abnormal development	18461090	CNVD
Disorders of sex development	21048976	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Lung cancer	20668451	CNVD
Schizophrenia	20838587	CNVD
Glioblastoma	18772890	CNVD
Glioblastoma multiforme	21390271	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21611746	CNVD
Melanoma	22183965	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:10289200-10290400	Enhancers	Fetal Brain Male	brain
2	chr9:10297600-10298000	Enhancers	Fetal Heart	heart
3	chr9:10320400-10320800	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr9:10320800-10321000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr9:10321000-10321400	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr9:10322200-10323600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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