Variant report

Variant	nsv972289
Chromosome Location	chr9:47190-62314
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 173 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:173 , 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	rs4741796	chr9:47217-47218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs9407063	chr9:47242-47243	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs541802458	chr9:47244-47245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561435587	chr9:47276-47277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs9407064	chr9:47303-47304	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs181248323	chr9:47318-47319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs9408289	chr9:47352-47353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532729087	chr9:47366-47367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547620686	chr9:47373-47374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200738096	chr9:47395-47396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566154274	chr9:47458-47459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148668613	chr9:47459-47460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370646707	chr9:47488-47489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs375114732	chr9:47535-47536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536913695	chr9:47557-47558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558414355	chr9:47576-47577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559301988	chr9:48460-48461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577420088	chr9:48464-48465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113606208	chr9:48465-48466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376921346	chr9:48467-48468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541286899	chr9:48499-48500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12353065	chr9:48515-48516	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs559863223	chr9:48544-48545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530217434	chr9:48558-48559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs9408297	chr9:48559-48560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542338878	chr9:48562-48563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563440619	chr9:48596-48597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138825825	chr9:48609-48610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552114471	chr9:48626-48627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570419553	chr9:48666-48667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528361830	chr9:48672-48673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186491795	chr9:48673-48674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568270943	chr9:48679-48680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139803529	chr9:48728-48729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557132385	chr9:48758-48759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201220995	chr9:48779-48780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10453203	chr9:48789-48790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs62531206	chr9:48798-48799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs62531207	chr9:48827-48828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10453175	chr9:48834-48835	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs541745082	chr9:48866-48867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553369502	chr9:48869-48870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10453176	chr9:48914-48915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375868389	chr9:48952-48953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10453177	chr9:48962-48963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542010603	chr9:48978-48979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563453074	chr9:48992-48993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530869481	chr9:48996-48997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545817932	chr9:49037-49038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561904268	chr9:49039-49040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164920	CNVD
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
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
Autism	22495311	CNVD
Non-syndromic sensorineural hearing loss	17122850	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
early-passage human iPS cells	21368824	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:46200-47600	Enhancers	K562	blood
2	chr9:48400-52400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr9:52400-53400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr9:52600-53000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr9:62000-62200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr9:62200-63000	Enhancers	Fetal Thymus	thymus

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