Variant report

Variant	nsv892012
Chromosome Location	chr9:908750-932875
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:931185..932724-chr9:947067..948621,2	MCF-7	breast:
2	chr9:923145..924947-chr9:928055..930388,2	MCF-7	breast:
3	chr9:923145..924947-chr9:928055..930388,2	MCF-7	breast:
4	chr9:910762..911411-chr9:998511..999239,3	MCF-7	breast:
5	chr9:852085..854136-chr9:910104..912950,2	K562	blood:

Extended variants
information (count: 465 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:465 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16925720	chr9:908750-908751	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs529149881	chr9:908763-908764	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs548909383	chr9:908767-908768	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs186729323	chr9:908797-908798	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs192187704	chr9:908804-908805	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs185778992	chr9:908807-908808	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs539306716	chr9:908824-908825	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs571631863	chr9:908826-908827	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs190203457	chr9:908842-908843	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs554203224	chr9:908852-908853	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs374180762	chr9:908853-908854	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs536905942	chr9:908866-908867	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs368948016	chr9:908885-908886	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs12350317	chr9:908902-908903	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs371480022	chr9:908931-908932	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
16	rs545290360	chr9:908942-908943	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs559141304	chr9:908981-908982	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs144499394	chr9:909029-909030	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs367668760	chr9:909039-909040	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538481849	chr9:909040-909041	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539988543	chr9:909053-909054	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559710256	chr9:909059-909060	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528870421	chr9:909132-909133	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs75816289	chr9:909134-909135	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556771707	chr9:909140-909141	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531664803	chr9:909155-909156	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551263448	chr9:909166-909167	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145220757	chr9:909195-909196	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75189764	chr9:909209-909210	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527774514	chr9:909217-909218	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182012559	chr9:909221-909222	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11794935	chr9:909259-909260	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567616698	chr9:909282-909283	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149126248	chr9:909311-909312	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs60693960	chr9:909318-909319	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs542195843	chr9:909324-909325	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371454582	chr9:909326-909327	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552525614	chr9:909333-909334	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184300685	chr9:909385-909386	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78187724	chr9:909444-909445	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572643684	chr9:909469-909470	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539902783	chr9:909483-909484	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188741171	chr9:909505-909506	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573276328	chr9:909512-909513	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542198271	chr9:909534-909535	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562529352	chr9:909562-909563	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143295622	chr9:909572-909573	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1885779	chr9:909580-909581	Enhancers Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs181126930	chr9:909622-909623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564890064	chr9:909659-909660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Lynch syndrome	18415027	CNVD
Retinoblastoma	21504564	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	22286061	CNVD
Williams-beuren syndrome	18553513	CNVD
Disorders of sex development	21048976	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
prenatal diagnosis	20453657	CNVD
Gastric cancer	16715143	CNVD
Esophageal squamous carcinoma	18405350	CNVD
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
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
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
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
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	20531469	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Cancer	21272361	CNVD
Non-small cell lung cancer	16651412	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:900600-909000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:904000-908800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr9:906000-909200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr9:906400-908800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr9:906400-909000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:908200-908800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr9:908200-910000	Enhancers	H1 Cell Line	embryonic stem cell
8	chr9:908400-908800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr9:908400-908800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr9:908400-909000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
11	chr9:908400-909800	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr9:908600-909400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr9:908800-909000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr9:908800-909000	Active TSS	H9 Cell Line	embryonic stem cell
15	chr9:908800-909200	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr9:908800-909200	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr9:908800-909200	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr9:908800-909200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr9:908800-909200	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr9:908800-909400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr9:908800-909400	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr9:909000-909200	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr9:909000-909200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr9:909000-909200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr9:909000-909200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
26	chr9:909000-909400	Flanking Active TSS	H9 Cell Line	embryonic stem cell
27	chr9:909000-909400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr9:909200-909400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr9:909200-909400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr9:909200-909400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr9:909200-909600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr9:909200-911000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr9:909400-909600	Active TSS	H9 Cell Line	embryonic stem cell
34	chr9:909400-909800	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr9:909400-910000	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr9:909400-910200	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr9:909400-910200	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr9:909400-911000	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr9:909600-910600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr9:909800-914000	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr9:910000-913800	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr9:910200-911000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr9:910600-911200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr9:911000-911200	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr9:911000-911200	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr9:911000-911200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr9:911200-912600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr9:911200-914000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr9:913800-914200	Enhancers	H1 Cell Line	embryonic stem cell
50	chr9:914000-914200	Enhancers	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links