Variant report

Variant	nsv892755
Chromosome Location	chr9:22455892-22518195
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:22302782..22305026-chr9:22452967..22455959,2	MCF-7	breast:
2	chr9:22458728..22461056-chr9:22461148..22464605,3	MCF-7	breast:
3	chr9:22458728..22461056-chr9:22461148..22464605,3	MCF-7	breast:

Extended variants
information (count: 1188 )
Associated
traits (count: 159 )

Variant overlapped rSNPs/rCNVs (count:1188 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs505447	chr9:22455892-22455893	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs550896111	chr9:22455949-22455950	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201852687	chr9:22455970-22455971	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34630293	chr9:22456009-22456010	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565966702	chr9:22456023-22456024	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534986854	chr9:22456056-22456057	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551571355	chr9:22456067-22456068	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573940728	chr9:22456167-22456168	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542845648	chr9:22456208-22456209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115509974	chr9:22456216-22456217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10738628	chr9:22456296-22456297	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs183879272	chr9:22456306-22456307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189282960	chr9:22456307-22456308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527307263	chr9:22456310-22456311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540982499	chr9:22456365-22456366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551805255	chr9:22456378-22456379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561252209	chr9:22456408-22456409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113344623	chr9:22456413-22456414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149146727	chr9:22456428-22456429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569946896	chr9:22456458-22456459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532715596	chr9:22456474-22456475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552410340	chr9:22456491-22456492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566129706	chr9:22456517-22456518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150025392	chr9:22456584-22456585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534716058	chr9:22456618-22456619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4977583	chr9:22456628-22456629	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs146526054	chr9:22456651-22456652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536585596	chr9:22456677-22456678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556475451	chr9:22456702-22456703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576328221	chr9:22456706-22456707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538794158	chr9:22456751-22456752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181952141	chr9:22456776-22456777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558381257	chr9:22456794-22456795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572062344	chr9:22456822-22456823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139189839	chr9:22456828-22456829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185256303	chr9:22456898-22456899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574077543	chr9:22457012-22457013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534343052	chr9:22457013-22457014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543732837	chr9:22457014-22457015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375921322	chr9:22457041-22457042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs62574787	chr9:22457108-22457109	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs143113365	chr9:22457136-22457137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147077475	chr9:22457162-22457163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562604254	chr9:22457170-22457171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552979721	chr9:22457181-22457182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75947299	chr9:22457182-22457183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148144137	chr9:22457197-22457198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370970837	chr9:22457198-22457199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs115519403	chr9:22457214-22457215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535733935	chr9:22457327-22457328	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:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:22448400-22459000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:22450200-22456600	Weak transcription	HUVEC	blood vessel
3	chr9:22451800-22456400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:22452000-22456000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr9:22453000-22456200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr9:22456200-22463000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr9:22461800-22462000	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr9:22463000-22463200	Bivalent/Poised TSS	Fetal Brain Male	brain
9	chr9:22463000-22463600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr9:22463000-22463800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr9:22463000-22463800	Enhancers	Hela-S3	cervix
12	chr9:22463400-22463600	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr9:22469800-22470000	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr9:22469800-22470000	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr9:22470000-22471200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr9:22470200-22470400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr9:22470200-22471200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr9:22471000-22472000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr9:22471200-22471800	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr9:22471200-22472000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr9:22471600-22471800	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr9:22471600-22472000	Enhancers	H1 Cell Line	embryonic stem cell
23	chr9:22472000-22481600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr9:22479000-22480200	ZNF genes & repeats	Liver	Liver
25	chr9:22480200-22485600	Weak transcription	Liver	Liver
26	chr9:22481200-22482400	Enhancers	Fetal Brain Male	brain
27	chr9:22481400-22484600	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr9:22481600-22481800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr9:22481600-22481800	Enhancers	H1 Cell Line	embryonic stem cell
30	chr9:22481600-22481800	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr9:22481600-22482200	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr9:22481600-22482200	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr9:22481600-22482200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr9:22481600-22484800	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr9:22481800-22482000	Enhancers	H9 Cell Line	embryonic stem cell
36	chr9:22481800-22482600	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr9:22481800-22483400	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr9:22481800-22483400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr9:22482000-22483400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr9:22482200-22482600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr9:22482200-22482600	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr9:22482200-22483200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr9:22482400-22483600	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr9:22482400-22483600	Weak transcription	Fetal Brain Male	brain
45	chr9:22482600-22483000	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr9:22482600-22484400	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr9:22482600-22484800	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr9:22483000-22484200	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr9:22483400-22483600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr9:22483400-22484200	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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