Variant report

Variant	nsv437640
Chromosome Location	chr9:1161738-1163046
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	chr9:1156562..1162179-chr9:1163960..1167701,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000236594	chromatin interactions

Extended variants
information (count: 59 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4740498	chr9:1161738-1161739	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs530993883	chr9:1161808-1161809	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs573883244	chr9:1161812-1161813	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs542982509	chr9:1161813-1161814	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs185018693	chr9:1161831-1161832	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs570682184	chr9:1161834-1161835	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs4740499	chr9:1161858-1161859	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs10959896	chr9:1161863-1161864	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs565391654	chr9:1161885-1161886	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs189926401	chr9:1161922-1161923	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs181129252	chr9:1161944-1161945	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs185437694	chr9:1161953-1161954	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs10756258	chr9:1161994-1161995	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs528828055	chr9:1162000-1162001	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs10809509	chr9:1162013-1162014	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs375308373	chr9:1162051-1162052	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs538880315	chr9:1162066-1162067	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs73640292	chr9:1162108-1162109	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs10511429	chr9:1162143-1162144	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs113229108	chr9:1162180-1162181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533607067	chr9:1162202-1162203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535798768	chr9:1162217-1162218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189749583	chr9:1162223-1162224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573601846	chr9:1162229-1162230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142165208	chr9:1162242-1162243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556532446	chr9:1162247-1162248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576367278	chr9:1162276-1162277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545243136	chr9:1162279-1162280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564881853	chr9:1162282-1162283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371335138	chr9:1162286-1162287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs151232651	chr9:1162298-1162299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548603778	chr9:1162328-1162329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10738240	chr9:1162361-1162362	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs537661109	chr9:1162382-1162383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557886633	chr9:1162398-1162399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139193285	chr9:1162402-1162403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182080711	chr9:1162412-1162413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs10511428	chr9:1162447-1162448	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs566102055	chr9:1162459-1162460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs111743482	chr9:1162466-1162467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs10738241	chr9:1162493-1162494	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs7025428	chr9:1162524-1162525	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs577854448	chr9:1162531-1162532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs145059322	chr9:1162535-1162536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536268587	chr9:1162543-1162544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs7028761	chr9:1162556-1162557	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs576405334	chr9:1162566-1162567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs373220419	chr9:1162574-1162575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs186407721	chr9:1162585-1162586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs572195462	chr9:1162628-1162629	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Pancreatic ductal adenocarcinoma	19077451	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
Cancer	21272361	CNVD
Autism	22495311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Esophageal cancer	21851588	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1159600-1162400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr9:1162400-1162800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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