Variant report

Variant	nsv6502
Chromosome Location	chr9:22487566-22518348
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 166 )
Associated
traits (count: 157 )

Variant overlapped rSNPs/rCNVs (count:166 , 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	rs184513189	chr9:22508210-22508211	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs189172626	chr9:22508213-22508214	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs553582339	chr9:22508214-22508215	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs573608862	chr9:22508216-22508217	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs181210912	chr9:22508250-22508251	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs548810143	chr9:22508254-22508255	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs530209942	chr9:22508261-22508262	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs147096723	chr9:22508280-22508281	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs200495563	chr9:22508281-22508282	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs545619525	chr9:22508286-22508287	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs565439510	chr9:22508295-22508296	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs527881815	chr9:22508300-22508301	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs201947032	chr9:22508334-22508335	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs541563677	chr9:22508338-22508339	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs186385987	chr9:22508356-22508357	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs200022319	chr9:22508357-22508358	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs7021983	chr9:22508364-22508365	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs10811717	chr9:22508382-22508383	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs150683025	chr9:22508401-22508402	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs568835726	chr9:22508412-22508413	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs191282142	chr9:22508414-22508415	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs551252300	chr9:22508421-22508422	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs577480341	chr9:22508436-22508437	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs533726500	chr9:22508457-22508458	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs180698764	chr9:22508460-22508461	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs139042891	chr9:22508476-22508477	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs536265115	chr9:22508480-22508481	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs555837270	chr9:22508498-22508499	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs185122994	chr9:22508525-22508526	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs539383422	chr9:22508534-22508535	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs550430396	chr9:22508556-22508557	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs118182632	chr9:22508558-22508559	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs541250125	chr9:22508567-22508568	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs149470543	chr9:22508584-22508585	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs574811054	chr9:22508589-22508590	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs554197204	chr9:22508595-22508596	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs563381621	chr9:22508627-22508628	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs532366989	chr9:22508642-22508643	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs190860356	chr9:22508661-22508662	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs564821213	chr9:22508666-22508667	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs143869417	chr9:22508701-22508702	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs547244301	chr9:22508715-22508716	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs139884095	chr9:22508718-22508719	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs199953486	chr9:22508723-22508724	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs535925779	chr9:22508755-22508756	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs200879702	chr9:22508758-22508759	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs549894305	chr9:22508787-22508788	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs7022740	chr9:22508807-22508808	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs546050141	chr9:22508815-22508816	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs559326872	chr9:22508816-22508817	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:157)

Disease	PMID	Source
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
Oral squamous cell carcinoma	17134496	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
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	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
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic myeloid leukemia	21384125	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Cancer	22183965	CNVD
Glioblastoma multiforme	21569311	CNVD
Myelofibrosis	22110671	CNVD
Ewing''s sarcoma	22429812	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Lung cancer	21911935	CNVD
Primary central nervous system lymphoma	21088137	CNVD
head and neck squamous cell carcinoma	21798897	CNVD
Cancer	21253487	CNVD
Glioblastoma multiforme	22286061	CNVD
Intracranial ependymoma	16609018	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Urothelial cell carcinoma	18451213	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Leukemia	19602459	CNVD
Acute monocytic leukemia	16498392	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Leukemia	18688285	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Acute myeloid leukemia	19651601	CNVD
Coronary Disease	20032323	CNVD
Squamous cell cancer	20885788	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21732550	CNVD
Gastric cancer	22539939	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Metastatic melanoma	18483359	CNVD
Non-small cell lung cancer	20864512	CNVD
Cervical cancer	21062161	CNVD
Acute myeloid leukemia	16864856	CNVD
Glioblastoma	17090523	CNVD
Lung cancer	16773561	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16774939	CNVD
Bladder cancer	19088036	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	16977458	CNVD
Glioblastoma multiforme	17369134	CNVD
Chagasic megaesophagus	20163722	CNVD
Melanoma	19566914	CNVD
Squamous cell cancer	19047905	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Glioma	20126413	CNVD
Melanoma	17363583	CNVD
Glioblastoma multiforme	19115005	CNVD
Glioblastoma multiforme	21138945	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Cancer	20581869	CNVD
Oral cancer	22144094	CNVD
Barrett''s syndrome	19417022	CNVD
Breast cancer	17142309	CNVD
Ependymoma	18628472	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	17237825	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-small cell lung cancer	16651412	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:22508200-22509000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr9:22515400-22515600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr9:22515600-22516800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr9:22516800-22517400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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