Variant report

Variant	nsv436619
Chromosome Location	chr9:8049289-8054206
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559796644	chr9:8053012-8053013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559030156	chr9:8053055-8053056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs370993036	chr9:8053062-8053063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140884491	chr9:8053125-8053126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150156175	chr9:8053133-8053134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574943589	chr9:8053135-8053136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542451316	chr9:8053154-8053155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs545571043	chr9:8053157-8053158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559990293	chr9:8053234-8053235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs9407398	chr9:8053254-8053255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs527408503	chr9:8053257-8053258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185775936	chr9:8053282-8053283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563754458	chr9:8053306-8053307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs138157273	chr9:8053364-8053365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549665215	chr9:8053399-8053400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs142327908	chr9:8053416-8053417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs529067300	chr9:8053431-8053432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547615578	chr9:8053444-8053445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566839274	chr9:8053471-8053472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs376729591	chr9:8053519-8053520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs374658164	chr9:8053520-8053521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368575114	chr9:8053521-8053522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs190244087	chr9:8053523-8053524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs71317336	chr9:8053551-8053552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs3221563	chr9:8053552-8053553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565367645	chr9:8053561-8053562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs558966640	chr9:8053563-8053564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570865092	chr9:8053567-8053568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs538499633	chr9:8053570-8053571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs56811746	chr9:8053609-8053610	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs575126122	chr9:8053633-8053634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs146327943	chr9:8053683-8053684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs139177735	chr9:8053702-8053703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs554378502	chr9:8053704-8053705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs993042	chr9:8053714-8053715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545515022	chr9:8053762-8053763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563691336	chr9:8053779-8053780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575639713	chr9:8053788-8053789	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
Pancreatic cancer	21811587	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8053000-8053400	Enhancers	Spleen	Spleen
2	chr9:8053200-8053400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr9:8053200-8053800	Enhancers	Esophagus	oesophagus

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