Variant report

Variant	nsv526611
Chromosome Location	chr9:10463098-10505161
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 93 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2382216	chr9:10463098-10463099	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs560752070	chr9:10463101-10463102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs77272705	chr9:10463117-10463118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539386331	chr9:10463194-10463195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375101500	chr9:10463207-10463208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556381377	chr9:10463215-10463216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576348832	chr9:10463216-10463217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542295038	chr9:10463256-10463257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555905910	chr9:10463258-10463259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572324043	chr9:10463259-10463260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10124165	chr9:10463261-10463262	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs564359806	chr9:10463273-10463274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375526234	chr9:10463283-10463284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533671807	chr9:10463299-10463300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10124191	chr9:10463303-10463304	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs4474072	chr9:10463322-10463323	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs529455858	chr9:10463329-10463330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374391607	chr9:10463340-10463341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567835903	chr9:10463373-10463374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116311759	chr9:10463388-10463389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547353095	chr9:10463411-10463412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570390818	chr9:10463454-10463455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548218882	chr9:10463492-10463493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550099810	chr9:10463506-10463507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34072451	chr9:10463529-10463530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6474553	chr9:10463537-10463538	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs527256834	chr9:10463544-10463545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373193155	chr9:10463553-10463554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555630707	chr9:10463580-10463581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142547663	chr9:10463586-10463587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534847223	chr9:10463593-10463594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185376405	chr9:10463618-10463619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147369483	chr9:10463620-10463621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575604160	chr9:10463621-10463622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112499360	chr9:10463662-10463663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113926259	chr9:10463710-10463711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34505179	chr9:10463726-10463727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190722531	chr9:10463742-10463743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559553474	chr9:10463750-10463751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191288884	chr9:10463760-10463761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370159432	chr9:10463763-10463764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527368662	chr9:10463778-10463779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539395547	chr9:10463781-10463782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12378730	chr9:10463855-10463856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183903583	chr9:10463890-10463891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188580854	chr9:10463891-10463892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181421121	chr9:10463903-10463904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369827305	chr9:10463932-10463933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140687920	chr9:10463957-10463958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569791799	chr9:10463997-10463998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

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

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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