Variant report

Variant	nsv437084
Chromosome Location	chr9:10559329-10590179
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 195 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:195 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192941092	chr9:10561479-10561480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544989098	chr9:10561485-10561486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185587348	chr9:10561502-10561503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575347374	chr9:10561511-10561512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537517434	chr9:10561524-10561525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544652504	chr9:10561559-10561560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561408843	chr9:10561561-10561562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530114458	chr9:10561575-10561576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547045084	chr9:10561590-10561591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574352876	chr9:10561609-10561610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs190516561	chr9:10561662-10561663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532807390	chr9:10561686-10561687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552618765	chr9:10561702-10561703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369521533	chr9:10561755-10561756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569389697	chr9:10561773-10561774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538068603	chr9:10561809-10561810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2038592	chr9:10561818-10561819	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs143874171	chr9:10561845-10561846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535837279	chr9:10561868-10561869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs180801518	chr9:10561874-10561875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566349769	chr9:10561881-10561882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2757874	chr9:10561884-10561885	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs114054290	chr9:10561890-10561891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575381175	chr9:10561916-10561917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544446561	chr9:10561929-10561930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs147324467	chr9:10561944-10561945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs371274606	chr9:10562013-10562014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs148784004	chr9:10562014-10562015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533602765	chr9:10562042-10562043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540738636	chr9:10562075-10562076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs183471797	chr9:10562079-10562080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs141579626	chr9:10562080-10562081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs546440644	chr9:10562098-10562099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs79900907	chr9:10562109-10562110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs115686747	chr9:10562126-10562127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs548417359	chr9:10562142-10562143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568328294	chr9:10562208-10562209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540207922	chr9:10562224-10562225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs10959168	chr9:10562241-10562242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs529695925	chr9:10562303-10562304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs553733577	chr9:10562325-10562326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs560387380	chr9:10562329-10562330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs199672347	chr9:10562330-10562331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs78071764	chr9:10562343-10562344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs79807520	chr9:10562344-10562345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs112768571	chr9:10562345-10562346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs7849535	chr9:10562354-10562355	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs188199065	chr9:10562395-10562396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs35995022	chr9:10562413-10562414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs371078566	chr9:10562416-10562417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:112)

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

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:10561400-10564200	Enhancers	NHEK	skin
2	chr9:10561600-10562200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr9:10562000-10562800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr9:10562200-10562600	Enhancers	HMEC	breast
5	chr9:10562200-10563800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr9:10562600-10563000	Weak transcription	HMEC	breast
7	chr9:10562800-10563200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr9:10563000-10564200	Enhancers	HMEC	breast
9	chr9:10563200-10563600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr9:10563800-10564200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr9:10571800-10572000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr9:10571800-10572000	Enhancers	Spleen	Spleen
13	chr9:10586200-10587200	Enhancers	NHEK	skin

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