Variant report

Variant	nsv892756
Chromosome Location	chr9:22466171-22508807
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 729 )
Associated
traits (count: 159 )

Variant overlapped rSNPs/rCNVs (count:729 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577492001	chr9:22469801-22469802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs546341980	chr9:22469809-22469810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559852211	chr9:22469836-22469837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573275706	chr9:22469840-22469841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs17239912	chr9:22469860-22469861	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs80282559	chr9:22469898-22469899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182629314	chr9:22469956-22469957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550025382	chr9:22469960-22469961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs35714859	chr9:22470018-22470019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1125421	chr9:22470056-22470057	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs532139825	chr9:22470067-22470068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs137920476	chr9:22470070-22470071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565392609	chr9:22470075-22470076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185580292	chr9:22470106-22470107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375332632	chr9:22470115-22470116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577208254	chr9:22470143-22470144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568035726	chr9:22470175-22470176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191498886	chr9:22470183-22470184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537372197	chr9:22470192-22470193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs16906176	chr9:22470200-22470201	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs182346035	chr9:22470247-22470248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs539999681	chr9:22470251-22470252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs149476529	chr9:22470252-22470253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573296378	chr9:22470344-22470345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542292296	chr9:22470369-22470370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs187896106	chr9:22470397-22470398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575562983	chr9:22470422-22470423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543365940	chr9:22470484-22470485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563199340	chr9:22470539-22470540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13300888	chr9:22470554-22470555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs13299580	chr9:22470582-22470583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532176859	chr9:22470601-22470602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs13301039	chr9:22470610-22470611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545641739	chr9:22470617-22470618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559115131	chr9:22470634-22470635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs143958880	chr9:22470637-22470638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138812947	chr9:22470649-22470650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531776311	chr9:22470681-22470682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548248789	chr9:22470690-22470691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567986140	chr9:22470745-22470746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372312079	chr9:22470802-22470803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530493353	chr9:22470867-22470868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551306291	chr9:22470879-22470880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142833112	chr9:22470895-22470896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs193078275	chr9:22470949-22470950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147430688	chr9:22470957-22470958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7850296	chr9:22471030-22471031	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs576162607	chr9:22471031-22471032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184232200	chr9:22471099-22471100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs116470728	chr9:22471131-22471132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:159)

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
Cancer	20164920	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	18451855	CNVD
Non-syndromic sensorineural hearing loss	19036926	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:22469800-22470000	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr9:22469800-22470000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr9:22470000-22471200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr9:22470200-22470400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr9:22470200-22471200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr9:22471000-22472000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr9:22471200-22471800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr9:22471200-22472000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr9:22471600-22471800	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr9:22471600-22472000	Enhancers	H1 Cell Line	embryonic stem cell
11	chr9:22472000-22481600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr9:22479000-22480200	ZNF genes & repeats	Liver	Liver
13	chr9:22480200-22485600	Weak transcription	Liver	Liver
14	chr9:22481200-22482400	Enhancers	Fetal Brain Male	brain
15	chr9:22481400-22484600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr9:22481600-22481800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr9:22481600-22481800	Enhancers	H1 Cell Line	embryonic stem cell
18	chr9:22481600-22481800	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr9:22481600-22482200	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr9:22481600-22482200	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr9:22481600-22482200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr9:22481600-22484800	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr9:22481800-22482000	Enhancers	H9 Cell Line	embryonic stem cell
24	chr9:22481800-22482600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr9:22481800-22483400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr9:22481800-22483400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr9:22482000-22483400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr9:22482200-22482600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr9:22482200-22482600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr9:22482200-22483200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr9:22482400-22483600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr9:22482400-22483600	Weak transcription	Fetal Brain Male	brain
33	chr9:22482600-22483000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr9:22482600-22484400	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr9:22482600-22484800	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr9:22483000-22484200	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr9:22483400-22483600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr9:22483400-22484200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr9:22483400-22484200	Enhancers	H1 Cell Line	embryonic stem cell
40	chr9:22483400-22484200	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr9:22483400-22484200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr9:22483600-22483800	Enhancers	Fetal Brain Male	brain
43	chr9:22483600-22484000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr9:22483600-22484200	Enhancers	H9 Cell Line	embryonic stem cell
45	chr9:22483800-22484200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr9:22484200-22484800	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr9:22484800-22485800	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr9:22486000-22486200	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr9:22508200-22509000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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