Variant report

Variant	esv3325515
Chromosome Location	chr9:43470056-43490804
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191587687	chr9:43474478-43474479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs587735616	chr9:43474569-43474570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs587629687	chr9:43474575-43474576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2491531	chr9:43474629-43474630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182989184	chr9:43474649-43474650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187528606	chr9:43474718-43474719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192000238	chr9:43474756-43474757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs587600726	chr9:43474757-43474758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184982984	chr9:43474769-43474770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575806368	chr9:43489007-43489008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546035482	chr9:43489009-43489010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs112254373	chr9:43489041-43489042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532073642	chr9:43489139-43489140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs541105030	chr9:43489142-43489143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552054581	chr9:43489817-43489818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs200478614	chr9:43489819-43489820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs547658874	chr9:43489831-43489832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs201320460	chr9:43489844-43489845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188633778	chr9:43489846-43489847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534837545	chr9:43489859-43489860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs79915011	chr9:43489860-43489861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570121403	chr9:43489867-43489868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568156962	chr9:43489871-43489872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535418506	chr9:43489887-43489888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557236311	chr9:43489925-43489926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs562144153	chr9:43489961-43489962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs138167139	chr9:43489962-43489963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs370537938	chr9:43489970-43489971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs540037679	chr9:43489985-43489986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558102073	chr9:43490004-43490005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs149144948	chr9:43490005-43490006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541171924	chr9:43490011-43490012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs200241865	chr9:43490189-43490190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs538997311	chr9:43490196-43490197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs201534118	chr9:43490231-43490232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs559478867	chr9:43490389-43490390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs574493131	chr9:43490487-43490488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541796977	chr9:43490515-43490516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571039452	chr9:43490547-43490548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191540961	chr9:43490610-43490611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530749912	chr9:43490618-43490619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201002402	chr9:43490641-43490642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2808903	chr9:43490648-43490649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552427912	chr9:43490659-43490660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564175569	chr9:43490701-43490702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528280083	chr9:43490716-43490717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2808902	chr9:43490717-43490718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2808901	chr9:43490755-43490756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546698859	chr9:43490766-43490767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549653763	chr9:43490775-43490776	Enhancers Weak transcription	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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:43474400-43474800	Enhancers	A549	lung
2	chr9:43489000-43489200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr9:43489800-43490800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr9:43489800-43491000	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr9:43490600-43491000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr9:43490600-43491000	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr9:43490600-43491000	Enhancers	NH-A	brain
8	chr9:43490600-43491200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:43490600-43491200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr9:43490600-43491200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr9:43490600-43491200	Enhancers	HUVEC	blood vessel
12	chr9:43490600-43491400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr9:43490600-43492000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr9:43490800-43491200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr9:43490800-43491200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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