Variant report

Variant	nsv1034601
Chromosome Location	chr9:11596157-11623397
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 102 )

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	rs142897513	chr9:11597200-11597201	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs550317365	chr9:11597246-11597247	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs375603701	chr9:11597284-11597285	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs546660068	chr9:11597299-11597300	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs560742747	chr9:11597300-11597301	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs566872322	chr9:11597305-11597306	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs367590477	chr9:11597310-11597311	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs538638491	chr9:11597366-11597367	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs529896728	chr9:11597372-11597373	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs150206433	chr9:11597422-11597423	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs77385852	chr9:11597491-11597492	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs35226249	chr9:11597512-11597513	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs73411441	chr9:11597528-11597529	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs555214025	chr9:11597535-11597536	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs74667809	chr9:11597572-11597573	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs1822388	chr9:11597585-11597586	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs535374674	chr9:11611602-11611603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs137968105	chr9:11611622-11611623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574459002	chr9:11611649-11611650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs11787535	chr9:11611655-11611656	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs572172963	chr9:11611662-11611663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs78695579	chr9:11611666-11611667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560584888	chr9:11611715-11611716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554015661	chr9:11611732-11611733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs539063502	chr9:11612601-11612602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570696120	chr9:11612603-11612604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs76705127	chr9:11612613-11612614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188641876	chr9:11612615-11612616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561924094	chr9:11612655-11612656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs181283975	chr9:11612673-11612674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs541480701	chr9:11612679-11612680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs150555831	chr9:11612709-11612710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs139323145	chr9:11612723-11612724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549917620	chr9:11612738-11612739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs150006704	chr9:11612763-11612764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531635745	chr9:11612774-11612775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs34640360	chr9:11618414-11618415	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs368560057	chr9:11618427-11618428	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs183535198	chr9:11618437-11618438	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs17239288	chr9:11618444-11618445	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs547149823	chr9:11618458-11618459	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs563856320	chr9:11618461-11618462	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs532898094	chr9:11618466-11618467	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs549345071	chr9:11618468-11618469	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs569359492	chr9:11618508-11618509	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs187098706	chr9:11618537-11618538	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs190438983	chr9:11618573-11618574	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs535074769	chr9:11618576-11618577	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs566093952	chr9:11618581-11618582	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs535241691	chr9:11618590-11618591	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
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
abnormal development	18461090	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
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
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
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	18511947	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:11597200-11597600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr9:11611600-11611800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr9:11612600-11612800	Enhancers	Fetal Heart	heart
4	chr9:11618400-11618800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr9:11618600-11618800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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