Variant report

Variant	esv3424525
Chromosome Location	chr9:43490756-43505854
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 669 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:669 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546698859	chr9:43490766-43490767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549653763	chr9:43490775-43490776	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568171019	chr9:43490779-43490780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2808900	chr9:43490792-43490793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs62555067	chr9:43490814-43490815	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs550526235	chr9:43490823-43490824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569218409	chr9:43490833-43490834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539772685	chr9:43490845-43490846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558423934	chr9:43490852-43490853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573396126	chr9:43490853-43490854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs143204472	chr9:43490854-43490855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553105758	chr9:43490867-43490868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568608143	chr9:43490871-43490872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs541933650	chr9:43490876-43490877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563167774	chr9:43490881-43490882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575196772	chr9:43490898-43490899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs368947382	chr9:43490906-43490907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs4961766	chr9:43490951-43490952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs4961767	chr9:43490953-43490954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557444797	chr9:43491003-43491004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184369499	chr9:43491029-43491030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564365465	chr9:43491036-43491037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189802352	chr9:43491046-43491047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182587307	chr9:43491058-43491059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187149003	chr9:43491069-43491070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529379995	chr9:43491091-43491092	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551032007	chr9:43491093-43491094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2998509	chr9:43491100-43491101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2998508	chr9:43491101-43491102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs4961768	chr9:43491116-43491117	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs569201465	chr9:43491130-43491131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533349514	chr9:43491147-43491148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371504491	chr9:43491148-43491149	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551793595	chr9:43491154-43491155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567104775	chr9:43491156-43491157	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534413791	chr9:43491193-43491194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113316481	chr9:43491223-43491224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs558069454	chr9:43491228-43491229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs374959833	chr9:43491288-43491289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs556032801	chr9:43491289-43491290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs189586426	chr9:43491295-43491296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs4490962	chr9:43491330-43491331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs75620756	chr9:43491331-43491332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs2491519	chr9:43491362-43491363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs535594591	chr9:43491448-43491449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557012378	chr9:43491453-43491454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs4501703	chr9:43491459-43491460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540471163	chr9:43491475-43491476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs142022625	chr9:43491494-43491495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs376893467	chr9:43491495-43491496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
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
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	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
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Oral cancer	21386901	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	20409316	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	21990379	CNVD
Astrocytoma	22246337	CNVD
Lung adenocarcinoma	17086460	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:43489800-43490800	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr9:43489800-43491000	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr9:43490600-43491000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr9:43490600-43491000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr9:43490600-43491000	Enhancers	NH-A	brain
6	chr9:43490600-43491200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:43490600-43491200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr9:43490600-43491200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr9:43490600-43491200	Enhancers	HUVEC	blood vessel
10	chr9:43490600-43491400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr9:43490600-43492000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr9:43490800-43491200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr9:43490800-43491200	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr9:43491000-43493000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr9:43491200-43505400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr9:43491200-43505800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr9:43491400-43491800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr9:43491800-43492000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr9:43491800-43492000	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr9:43492000-43493000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr9:43492000-43493400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr9:43492000-43493600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr9:43493000-43493800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr9:43493000-43493800	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr9:43493400-43493800	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr9:43493600-43493800	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr9:43505400-43505600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr9:43505400-43506000	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr9:43505400-43506400	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr9:43505400-43507000	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr9:43505600-43506000	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr9:43505600-43506000	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr9:43505600-43506200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr9:43505600-43507000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr9:43505800-43506000	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr9:43505800-43506200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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