Variant report

Variant	nsv892318
Chromosome Location	chr9:10462105-10523334
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 124 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540041517	chr9:10462244-10462245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576738774	chr9:10462281-10462282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568591902	chr9:10462287-10462288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539230767	chr9:10462333-10462334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182811843	chr9:10462350-10462351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs78424729	chr9:10462365-10462366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567764805	chr9:10462378-10462379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs386732555	chr9:10462423-10462424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12344789	chr9:10462429-10462430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576926269	chr9:10462436-10462437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10756039	chr9:10462487-10462488	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs143797118	chr9:10462519-10462520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188566043	chr9:10462529-10462530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146377335	chr9:10462544-10462545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10959108	chr9:10462560-10462561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150086176	chr9:10462564-10462565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562058899	chr9:10462568-10462569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139696897	chr9:10462574-10462575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541329954	chr9:10462582-10462583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75468319	chr9:10462626-10462627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533487423	chr9:10462709-10462710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550337051	chr9:10462726-10462727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs58409105	chr9:10462735-10462736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs16926055	chr9:10462793-10462794	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs374017623	chr9:10462825-10462826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531302210	chr9:10462886-10462887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113262184	chr9:10462965-10462966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371399999	chr9:10462977-10462978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567678686	chr9:10463003-10463004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373853059	chr9:10463035-10463036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533797984	chr9:10463054-10463055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2382216	chr9:10463098-10463099	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs560752070	chr9:10463101-10463102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs77272705	chr9:10463117-10463118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539386331	chr9:10463194-10463195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375101500	chr9:10463207-10463208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556381377	chr9:10463215-10463216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576348832	chr9:10463216-10463217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542295038	chr9:10463256-10463257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555905910	chr9:10463258-10463259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572324043	chr9:10463259-10463260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10124165	chr9:10463261-10463262	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs564359806	chr9:10463273-10463274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375526234	chr9:10463283-10463284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533671807	chr9:10463299-10463300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10124191	chr9:10463303-10463304	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs4474072	chr9:10463322-10463323	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs529455858	chr9:10463329-10463330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374391607	chr9:10463340-10463341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567835903	chr9:10463373-10463374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

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
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
Breast cancer	21611746	CNVD
Melanoma	22183965	CNVD
Barrett''s syndrome	19417022	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:10462200-10464200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr9:10464200-10464400	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr9:10464200-10464600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr9:10464400-10464600	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast

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