Variant report

Variant	nsv613073
Chromosome Location	chr9:1501977-1513917
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 783 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:783 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10961794	chr9:1501977-1501978	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs141428748	chr9:1501980-1501981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11788644	chr9:1502004-1502005	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs571662876	chr9:1502010-1502011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs74665546	chr9:1502011-1502012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs117450243	chr9:1502016-1502017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182636420	chr9:1502026-1502027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543831136	chr9:1502029-1502030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563751044	chr9:1502042-1502043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114093106	chr9:1502055-1502056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564893965	chr9:1502074-1502075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs527502604	chr9:1502086-1502087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7025212	chr9:1502113-1502114	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs187597455	chr9:1502171-1502172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1934242	chr9:1502176-1502177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529975526	chr9:1502178-1502179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549465567	chr9:1502202-1502203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1934241	chr9:1502210-1502211	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs538321166	chr9:1502213-1502214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7044479	chr9:1502219-1502220	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs72692325	chr9:1502225-1502226	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs543302799	chr9:1502232-1502233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535217444	chr9:1502254-1502255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555244815	chr9:1502286-1502287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369465231	chr9:1502297-1502298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192805140	chr9:1502320-1502321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557031344	chr9:1502328-1502329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572694028	chr9:1502341-1502342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577180776	chr9:1502362-1502363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545952113	chr9:1502364-1502365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76192207	chr9:1502370-1502371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184110230	chr9:1502409-1502410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528598076	chr9:1502415-1502416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs62534838	chr9:1502446-1502447	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs187283124	chr9:1502464-1502465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs62534839	chr9:1502481-1502482	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs569521921	chr9:1502499-1502500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532111546	chr9:1502500-1502501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551922111	chr9:1502511-1502512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192045430	chr9:1502531-1502532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145629403	chr9:1502570-1502571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541172146	chr9:1502576-1502577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568677229	chr9:1502579-1502580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138183251	chr9:1502598-1502599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78290999	chr9:1502611-1502612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372755481	chr9:1502626-1502627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114098884	chr9:1502645-1502646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539805331	chr9:1502648-1502649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552990271	chr9:1502696-1502697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184595664	chr9:1502709-1502710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Lynch syndrome	18415027	CNVD
Retinoblastoma	21504564	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	22286061	CNVD
Williams-beuren syndrome	18553513	CNVD
Disorders of sex development	21048976	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
prenatal diagnosis	20453657	CNVD
Gastric cancer	16715143	CNVD
Esophageal squamous carcinoma	18405350	CNVD
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
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
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
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
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	20531469	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
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Esophageal cancer	21851588	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1491000-1504000	Weak transcription	Adipose Nuclei	Adipose
2	chr9:1504000-1504800	Strong transcription	Adipose Nuclei	Adipose
3	chr9:1504800-1513800	Weak transcription	Adipose Nuclei	Adipose
4	chr9:1511000-1511200	Enhancers	NHEK	skin
5	chr9:1512600-1513000	Enhancers	Fetal Muscle Leg	muscle
6	chr9:1512800-1514200	Enhancers	NHEK	skin
7	chr9:1513000-1513400	Weak transcription	Fetal Muscle Leg	muscle
8	chr9:1513000-1513800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr9:1513200-1514000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr9:1513400-1514800	Enhancers	Fetal Muscle Leg	muscle
11	chr9:1513800-1514600	Enhancers	Adipose Nuclei	Adipose

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