Variant report

Variant	nsv1028715
Chromosome Location	chr9:7505178-7516672
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 535 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:535 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529077138	chr9:7506610-7506611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs201566681	chr9:7506698-7506699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557448825	chr9:7506699-7506700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549087747	chr9:7506713-7506714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192389356	chr9:7506721-7506722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559678221	chr9:7506724-7506725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369716799	chr9:7506745-7506746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79746248	chr9:7506760-7506761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs564527984	chr9:7506762-7506763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535909377	chr9:7506770-7506771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs141602869	chr9:7506795-7506796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550235957	chr9:7506835-7506836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181780142	chr9:7506851-7506852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs373822633	chr9:7506856-7506857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535652403	chr9:7506858-7506859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs117088428	chr9:7506877-7506878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs117480959	chr9:7506937-7506938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs147091338	chr9:7506951-7506952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs148150231	chr9:7506972-7506973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575976486	chr9:7506989-7506990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186138809	chr9:7506990-7506991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs76197569	chr9:7506997-7506998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs79992156	chr9:7507018-7507019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555436493	chr9:7507025-7507026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs75705931	chr9:7507083-7507084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs541188226	chr9:7507094-7507095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559592524	chr9:7507119-7507120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577978808	chr9:7507138-7507139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs371059366	chr9:7507139-7507140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576597917	chr9:7507162-7507163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs374187560	chr9:7507165-7507166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs545303614	chr9:7507166-7507167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs12340314	chr9:7507190-7507191	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs531712798	chr9:7507216-7507217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs377448493	chr9:7507217-7507218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs190810480	chr9:7507219-7507220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs183037696	chr9:7507233-7507234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs75848697	chr9:7507239-7507240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs17613477	chr9:7507284-7507285	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs75463245	chr9:7507322-7507323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs368438610	chr9:7507323-7507324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs371652182	chr9:7507354-7507355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552028778	chr9:7507384-7507385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs570300232	chr9:7507403-7507404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs537039669	chr9:7507410-7507411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs555412555	chr9:7507473-7507474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs374961420	chr9:7507483-7507484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs372031396	chr9:7507507-7507508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs573732088	chr9:7507518-7507519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs188364068	chr9:7507546-7507547	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
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
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
Developmental delay	21147756	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
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	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
Medulloblastoma	16783165	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7506600-7508200	Enhancers	Fetal Heart	heart
2	chr9:7507000-7511400	Enhancers	Fetal Lung	lung
3	chr9:7507400-7507800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr9:7507600-7508200	Enhancers	Left Ventricle	heart
5	chr9:7507800-7509600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr9:7508200-7510200	Weak transcription	Left Ventricle	heart
7	chr9:7509800-7510000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr9:7509800-7510000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr9:7509800-7510000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr9:7510000-7510200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr9:7510000-7510200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr9:7510000-7510400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr9:7510000-7510600	Enhancers	Ovary	ovary
14	chr9:7510200-7510400	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr9:7510200-7510400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr9:7510200-7510400	Enhancers	Left Ventricle	heart
17	chr9:7510400-7510600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr9:7510400-7510800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr9:7511000-7511200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr9:7511400-7511800	Weak transcription	Fetal Lung	lung
21	chr9:7511800-7512000	Enhancers	Fetal Lung	lung
22	chr9:7512000-7515800	Weak transcription	Fetal Lung	lung
23	chr9:7514600-7515600	Enhancers	Fetal Heart	heart
24	chr9:7515800-7517200	Enhancers	Fetal Lung	lung
25	chr9:7516200-7516800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr9:7516200-7517000	Enhancers	Cortex derived primary cultured neurospheres	brain

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