Variant report

Variant	nsv1021769
Chromosome Location	chr9:8971666-8987013
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72708155	chr9:8980610-8980611	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs540456406	chr9:8980631-8980632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565136294	chr9:8980639-8980640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532737737	chr9:8980654-8980655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570387341	chr9:8980664-8980665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562740319	chr9:8980692-8980693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs530074168	chr9:8980714-8980715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192513719	chr9:8980729-8980730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139165190	chr9:8980776-8980777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534263645	chr9:8980801-8980802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs62529151	chr9:8980807-8980808	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs1433536	chr9:8980814-8980815	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs537753078	chr9:8980815-8980816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556396474	chr9:8980818-8980819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs1433537	chr9:8980821-8980822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183913987	chr9:8980824-8980825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs141688515	chr9:8980875-8980876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs12554851	chr9:8980881-8980882	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs549300397	chr9:8980904-8980905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545486529	chr9:8980905-8980906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527836134	chr9:8980906-8980907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561486879	chr9:8980911-8980912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs77755870	chr9:8980954-8980955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs369970778	chr9:8981000-8981001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544598591	chr9:8981038-8981039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563161132	chr9:8981055-8981056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530310834	chr9:8981068-8981069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs143228442	chr9:8981081-8981082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs200189232	chr9:8981124-8981125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs386471054	chr9:8981129-8981130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs373837932	chr9:8981133-8981134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533535916	chr9:8981181-8981182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs77549978	chr9:8981197-8981198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs550085079	chr9:8981229-8981230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552662441	chr9:8981230-8981231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs149677243	chr9:8981246-8981247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531500213	chr9:8981282-8981283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs12552498	chr9:8981295-8981296	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs568373763	chr9:8981299-8981300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs76337238	chr9:8981350-8981351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs200914541	chr9:8981403-8981404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs554990305	chr9:8981537-8981538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565288487	chr9:8981549-8981550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565298837	chr9:8981551-8981552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs79594292	chr9:8981561-8981562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557803053	chr9:8981566-8981567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs187236047	chr9:8981614-8981615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546823861	chr9:8981627-8981628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs191666919	chr9:8981638-8981639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs1036278	chr9:8981644-8981645	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:112)

Disease	PMID	Source
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Disorders of sex development	21048976	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	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
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
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
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Metastatic melanoma	18483359	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
Pancreatic cancer	21811587	CNVD
Pancreatic ductal adenocarcinoma	19077451	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
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Developmental delay	21147756	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8980600-8981200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr9:8980600-8982000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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