Variant report

Variant	esv3434520
Chromosome Location	chr9:43168356-43190654
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr9:43190031-43190229	GM12878	blood:	n/a	n/a
2	CTCF	chr9:43179038-43179377	K562	blood:	n/a	chr9:43179196-43179205 chr9:43179226-43179235
3	CTCF	chr9:43188281-43188296	Spleen_OC	spleen:	n/a	n/a
4	CTCF	chr9:43187192-43187525	A549	lung:	n/a	chr9:43187379-43187397 chr9:43187380-43187396 chr9:43187381-43187394 chr9:43187374-43187395 chr9:43187384-43187392
5	CTCF	chr9:43176294-43176373	Lung_OC	lung:	n/a	n/a
6	CTCF	chr9:43187272-43187502	LNCaP	prostate:	n/a	chr9:43187379-43187397 chr9:43187380-43187396 chr9:43187381-43187394 chr9:43187374-43187395 chr9:43187384-43187392
7	CTCF	chr9:43186218-43186254	GM10248	blood:	n/a	n/a
8	CTCF	chr9:43187237-43187545	K562	blood:	n/a	chr9:43187379-43187397 chr9:43187380-43187396 chr9:43187381-43187394 chr9:43187374-43187395 chr9:43187384-43187392
9	CTCF	chr9:43179049-43179300	K562	blood:	n/a	chr9:43179196-43179205 chr9:43179226-43179235
10	CTCF	chr9:43179200-43179350	SK-N-SH_RA	brain:	n/a	chr9:43179226-43179235
11	CTCF	chr9:43179061-43179268	GM13976	blood:	n/a	chr9:43179196-43179205 chr9:43179226-43179235
12	CTCF	chr9:43187285-43187499	GM10248	blood:	n/a	chr9:43187379-43187397 chr9:43187380-43187396 chr9:43187381-43187394 chr9:43187374-43187395 chr9:43187384-43187392
13	CTCF	chr9:43169194-43169261	Spleen_OC	spleen:	n/a	n/a
14	CTCF	chr9:43187294-43187493	Lung_OC	lung:	n/a	chr9:43187379-43187397 chr9:43187380-43187396 chr9:43187381-43187394 chr9:43187374-43187395 chr9:43187384-43187392
15	CTCF	chr9:43179142-43179239	A549	lung:	n/a	chr9:43179196-43179205 chr9:43179226-43179235
16	CTCF	chr9:43186067-43186077	GM20000	blood:	n/a	n/a
17	CTCF	chr9:43174466-43174561	GM13976	blood:	n/a	n/a
18	CTCF	chr9:43179061-43179346	Medullo	brain:	n/a	chr9:43179196-43179205 chr9:43179226-43179235
19	CTCF	chr9:43187300-43187490	GM13977	blood:	n/a	chr9:43187379-43187397 chr9:43187380-43187396 chr9:43187381-43187394 chr9:43187374-43187395 chr9:43187384-43187392
20	CTCF	chr9:43187224-43187524	A549	lung:	n/a	chr9:43187379-43187397 chr9:43187380-43187396 chr9:43187381-43187394 chr9:43187374-43187395 chr9:43187384-43187392
21	CTCF	chr9:43182070-43182104	LNCaP	prostate:	n/a	n/a
22	CTCF	chr9:43187257-43187520	K562	blood:	n/a	chr9:43187379-43187397 chr9:43187380-43187396 chr9:43187381-43187394 chr9:43187374-43187395 chr9:43187384-43187392
23	CTCF	chr9:43178407-43178472	GM13976	blood:	n/a	n/a
24	CTCF	chr9:43179064-43179315	LNCaP	prostate:	n/a	chr9:43179196-43179205 chr9:43179226-43179235
25	CTCF	chr9:43179061-43179282	A549	lung:	n/a	chr9:43179196-43179205 chr9:43179226-43179235
26	CTCF	chr9:43187282-43187533	Spleen_OC	spleen:	n/a	chr9:43187379-43187397 chr9:43187380-43187396 chr9:43187381-43187394 chr9:43187374-43187395 chr9:43187384-43187392
27	CTCF	chr9:43173717-43173754	Medullo	brain:	n/a	n/a
28	CTCF	chr9:43186026-43186054	GM20000	blood:	n/a	n/a
29	CTCF	chr9:43177474-43177523	LNCaP	prostate:	n/a	n/a
30	CTCF	chr9:43180248-43180323	LNCaP	prostate:	n/a	n/a
31	CTCF	chr9:43187300-43187514	Kidney_OC	kidney:	n/a	chr9:43187379-43187397 chr9:43187380-43187396 chr9:43187381-43187394 chr9:43187374-43187395 chr9:43187384-43187392
32	CTCF	chr9:43177023-43177050	Kidney_OC	kidney:	n/a	n/a
33	CTCF	chr9:43183601-43183649	GM10248	blood:	n/a	n/a
34	CTCF	chr9:43179194-43179207	GM10248	blood:	n/a	chr9:43179196-43179205
35	CTCF	chr9:43183585-43183729	GM10266	blood:	n/a	n/a
36	CTCF	chr9:43187270-43187558	LNCaP	prostate:	n/a	chr9:43187379-43187397 chr9:43187380-43187396 chr9:43187381-43187394 chr9:43187374-43187395 chr9:43187384-43187392
37	CTCF	chr9:43179121-43179242	Fibrobl	skin:	n/a	chr9:43179196-43179205 chr9:43179226-43179235
38	CTCF	chr9:43178972-43179375	A549	lung:	n/a	chr9:43179196-43179205 chr9:43179226-43179235
39	CTCF	chr9:43179127-43179244	H1-hESC	embryonic stem cell:	n/a	chr9:43179196-43179205 chr9:43179226-43179235
40	CTCF	chr9:43176709-43176773	Spleen_OC	spleen:	n/a	n/a
41	CTCF	chr9:43179102-43179272	Pancreas_OC	pancreas:	n/a	chr9:43179196-43179205 chr9:43179226-43179235
42	CTCF	chr9:43187274-43187493	GM10266	blood:	n/a	chr9:43187379-43187397 chr9:43187380-43187396 chr9:43187381-43187394 chr9:43187374-43187395 chr9:43187384-43187392
43	CTCF	chr9:43187809-43187863	GM20000	blood:	n/a	n/a
44	CTCF	chr9:43187238-43187419	K562	blood:	n/a	chr9:43187379-43187397 chr9:43187380-43187396 chr9:43187381-43187394 chr9:43187374-43187395 chr9:43187384-43187392
45	CTCF	chr9:43179044-43179381	A549	lung:	n/a	chr9:43179196-43179205 chr9:43179226-43179235
46	CTCF	chr9:43179104-43179345	Spleen_OC	spleen:	n/a	chr9:43179196-43179205 chr9:43179226-43179235
47	CTCF	chr9:43187781-43187799	GM20000	blood:	n/a	n/a
48	CTCF	chr9:43187143-43187575	A549	lung:	n/a	chr9:43187379-43187397 chr9:43187380-43187396 chr9:43187381-43187394 chr9:43187374-43187395 chr9:43187384-43187392
49	CTCF	chr9:43187287-43187509	Pancreas_OC	pancreas:	n/a	chr9:43187379-43187397 chr9:43187380-43187396 chr9:43187381-43187394 chr9:43187374-43187395 chr9:43187384-43187392
50	CTCF	chr9:43169458-43169523	Lung_OC	lung:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD20A3-7	chr9:43178104-43178145	NONHSAT131355
2	lnc-ANKRD20A3-7	chr9:43174019-43175549	NONHSAT131355
3	lnc-ANKRD20A3-7	chr9:43177211-43177295	NONHSAT131355
4	lnc-ANKRD20A3-7	chr9:43177955-43178014	NONHSAT131355
5	lnc-ANKRD20A3-7	chr9:43179365-43179407	NONHSAT131355

Variant related genes	Relation type
ENSG00000236322	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568750939	chr9:43174361-43174362	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs549580466	chr9:43174379-43174380	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs200440717	chr9:43174380-43174381	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs567786288	chr9:43174411-43174412	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs3120055	chr9:43174652-43174653	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs12344235	chr9:43175072-43175073	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs12335981	chr9:43175091-43175092	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs11262138	chr9:43175462-43175463	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs55777913	chr9:43179368-43179369	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs75209334	chr9:43179395-43179396	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs62554292	chr9:43190428-43190429	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs62539815	chr9:43190453-43190454	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs62539814	chr9:43190470-43190471	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs62539813	chr9:43190501-43190502	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

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

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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