Variant report

Variant	nsv429981
Chromosome Location	chr9:1500755-1513917
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:1492000..1494748-chr9:1498884..1501267,2	MCF-7	breast:

Extended variants
information (count: 861 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:861 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7047146	chr9:1500755-1500756	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs181271695	chr9:1500762-1500763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575608176	chr9:1500764-1500765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544181974	chr9:1500766-1500767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112810040	chr9:1500794-1500795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531294498	chr9:1500831-1500832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79407968	chr9:1500843-1500844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34400667	chr9:1500856-1500857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540297687	chr9:1500874-1500875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74632110	chr9:1500907-1500908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555477619	chr9:1500937-1500938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542801246	chr9:1500941-1500942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562788020	chr9:1500953-1500954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73640484	chr9:1500985-1500986	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs79416772	chr9:1501020-1501021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571582193	chr9:1501032-1501033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146948750	chr9:1501066-1501067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547797400	chr9:1501067-1501068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567754650	chr9:1501092-1501093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536791130	chr9:1501095-1501096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10756625	chr9:1501109-1501110	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs77950785	chr9:1501117-1501118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115317255	chr9:1501138-1501139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147725934	chr9:1501143-1501144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577899377	chr9:1501149-1501150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539833967	chr9:1501154-1501155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373701299	chr9:1501212-1501213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567125138	chr9:1501213-1501214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553390794	chr9:1501216-1501217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573396590	chr9:1501219-1501220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs75646864	chr9:1501251-1501252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559662219	chr9:1501269-1501270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201589184	chr9:1501272-1501273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371746333	chr9:1501319-1501320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182978710	chr9:1501328-1501329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149179794	chr9:1501386-1501387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545654869	chr9:1501421-1501422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565416893	chr9:1501433-1501434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557368462	chr9:1501446-1501447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs55770609	chr9:1501449-1501450	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs58498719	chr9:1501459-1501460	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs62534837	chr9:1501469-1501470	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs530176955	chr9:1501480-1501481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35813592	chr9:1501518-1501519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111687793	chr9:1501522-1501523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528811988	chr9:1501558-1501559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569009085	chr9:1501593-1501594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537624288	chr9:1501595-1501596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551589985	chr9:1501607-1501608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7020606	chr9:1501618-1501619	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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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