Variant report

Variant	nsv982602
Chromosome Location	chr9:17671844-17676006
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 112 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540953077	chr9:17671851-17671852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561508563	chr9:17671901-17671902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529103522	chr9:17671948-17671949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs117155677	chr9:17671974-17671975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372292730	chr9:17671975-17671976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183100599	chr9:17671990-17671991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187826261	chr9:17672025-17672026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189610383	chr9:17672056-17672057	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182736793	chr9:17672060-17672061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551118828	chr9:17672067-17672068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566343062	chr9:17672068-17672069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187704999	chr9:17672081-17672082	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77851301	chr9:17672083-17672084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144422828	chr9:17672089-17672090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535882130	chr9:17672121-17672122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557081997	chr9:17672128-17672129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569294333	chr9:17672154-17672155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539955305	chr9:17672168-17672169	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558357999	chr9:17672191-17672192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112706466	chr9:17672204-17672205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148404142	chr9:17672208-17672209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556067236	chr9:17672212-17672213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs573551953	chr9:17672226-17672227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs192889352	chr9:17672239-17672240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs961372	chr9:17672277-17672278	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs184949998	chr9:17672281-17672282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188475155	chr9:17672283-17672284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192188868	chr9:17672321-17672322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs566032555	chr9:17672346-17672347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548996372	chr9:17672401-17672402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572069155	chr9:17672502-17672503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs3780236	chr9:17672517-17672518	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs550919560	chr9:17672518-17672519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs367889095	chr9:17672524-17672525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184769763	chr9:17672525-17672526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs371726958	chr9:17672596-17672597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558321414	chr9:17672630-17672631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567062932	chr9:17672632-17672633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555911353	chr9:17672635-17672636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189545922	chr9:17672639-17672640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs555684167	chr9:17672651-17672652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs4327940	chr9:17672658-17672659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs201901053	chr9:17672696-17672697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs182035234	chr9:17672707-17672708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs556093672	chr9:17672713-17672714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs577246163	chr9:17672720-17672721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs142456752	chr9:17672731-17672732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs557954212	chr9:17672765-17672766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs112241154	chr9:17672781-17672782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs571904699	chr9:17672808-17672809	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	21364760	CNVD
Cancer	22183965	CNVD
Lung adenocarcinoma	21935476	CNVD
Thoracic aortic aneurysm	21698135	CNVD
Pancreatic cancer	21811587	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17668000-17672200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr9:17672000-17673200	Enhancers	Fetal Brain Male	brain
3	chr9:17672200-17672600	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr9:17673600-17674200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr9:17673600-17674200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr9:17673800-17674200	Enhancers	HUES6 Cell Line	embryonic stem cell

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