Variant report

Variant	esv20511
Chromosome Location	chr9:43160076-43213640
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	chr9:43160512-43160671	GM12878	blood:	n/a	n/a
2	BATF	chr9:43190031-43190229	GM12878	blood:	n/a	n/a
3	BCL11A	chr9:43206082-43206341	GM12878	blood:	n/a	n/a
4	BCL11A	chr9:43209798-43210001	GM12878	blood:	n/a	n/a
5	BCL11A	chr9:43198110-43198378	GM12878	blood:	n/a	n/a
6	BCL11A	chr9:43194748-43194999	GM12878	blood:	n/a	n/a
7	BCL11A	chr9:43160466-43160652	GM12878	blood:	n/a	n/a
8	BCL11A	chr9:43206096-43206325	GM12878	blood:	n/a	n/a
9	CEBPB	chr9:43159950-43160315	K562	blood:	n/a	n/a
10	CEBPB	chr9:43160394-43160742	K562	blood:	n/a	n/a
11	CEBPB	chr9:43160461-43160681	K562	blood:	n/a	n/a
12	CTCF	chr9:43187300-43187490	GM13977	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	chr9:43179061-43179282	A549	lung:	n/a	chr9:43179196-43179205 chr9:43179226-43179235
15	CTCF	chr9:43183601-43183649	GM10248	blood:	n/a	n/a
16	CTCF	chr9:43183585-43183729	GM10266	blood:	n/a	n/a
17	CTCF	chr9:43187323-43187460	GM13976	blood:	n/a	chr9:43187379-43187397 chr9:43187380-43187396 chr9:43187381-43187394 chr9:43187374-43187395 chr9:43187384-43187392
18	CTCF	chr9:43179044-43179381	A549	lung:	n/a	chr9:43179196-43179205 chr9:43179226-43179235
19	CTCF	chr9:43178088-43178126	LNCaP	prostate:	n/a	n/a
20	CTCF	chr9:43177975-43178084	GM13976	blood:	n/a	n/a
21	CTCF	chr9:43178517-43178661	LNCaP	prostate:	n/a	n/a
22	CTCF	chr9:43187809-43187863	GM20000	blood:	n/a	n/a
23	CTCF	chr9:43178972-43179375	A549	lung:	n/a	chr9:43179196-43179205 chr9:43179226-43179235
24	CTCF	chr9:43173717-43173754	Medullo	brain:	n/a	n/a
25	CTCF	chr9:43187285-43187499	GM10248	blood:	n/a	chr9:43187379-43187397 chr9:43187380-43187396 chr9:43187381-43187394 chr9:43187374-43187395 chr9:43187384-43187392
26	CTCF	chr9:43187300-43187514	Kidney_OC	kidney:	n/a	chr9:43187379-43187397 chr9:43187380-43187396 chr9:43187381-43187394 chr9:43187374-43187395 chr9:43187384-43187392
27	CTCF	chr9:43176294-43176373	Lung_OC	lung:	n/a	n/a
28	CTCF	chr9:43186026-43186054	GM20000	blood:	n/a	n/a
29	CTCF	chr9:43186067-43186077	GM20000	blood:	n/a	n/a
30	CTCF	chr9:43184922-43185012	GM10248	blood:	n/a	n/a
31	CTCF	chr9:43187143-43187575	A549	lung:	n/a	chr9:43187379-43187397 chr9:43187380-43187396 chr9:43187381-43187394 chr9:43187374-43187395 chr9:43187384-43187392
32	CTCF	chr9:43180248-43180323	LNCaP	prostate:	n/a	n/a
33	CTCF	chr9:43179200-43179350	SK-N-SH_RA	brain:	n/a	chr9:43179226-43179235
34	CTCF	chr9:43179038-43179377	K562	blood:	n/a	chr9:43179196-43179205 chr9:43179226-43179235
35	CTCF	chr9:43179088-43179273	Kidney_OC	kidney:	n/a	chr9:43179196-43179205 chr9:43179226-43179235
36	CTCF	chr9:43177023-43177050	Kidney_OC	kidney:	n/a	n/a
37	CTCF	chr9:43179127-43179244	H1-hESC	embryonic stem cell:	n/a	chr9:43179196-43179205 chr9:43179226-43179235
38	CTCF	chr9:43179104-43179345	Spleen_OC	spleen:	n/a	chr9:43179196-43179205 chr9:43179226-43179235
39	CTCF	chr9:43187192-43187525	A549	lung:	n/a	chr9:43187379-43187397 chr9:43187380-43187396 chr9:43187381-43187394 chr9:43187374-43187395 chr9:43187384-43187392
40	CTCF	chr9:43182070-43182104	LNCaP	prostate:	n/a	n/a
41	CTCF	chr9:43188275-43188355	GM10248	blood:	n/a	n/a
42	CTCF	chr9:43174466-43174561	GM13976	blood:	n/a	n/a
43	CTCF	chr9:43179061-43179346	Medullo	brain:	n/a	chr9:43179196-43179205 chr9:43179226-43179235
44	CTCF	chr9:43179049-43179294	K562	blood:	n/a	chr9:43179196-43179205 chr9:43179226-43179235
45	CTCF	chr9:43185995-43186017	GM20000	blood:	n/a	n/a
46	CTCF	chr9:43179142-43179239	A549	lung:	n/a	chr9:43179196-43179205 chr9:43179226-43179235
47	CTCF	chr9:43178407-43178472	GM13976	blood:	n/a	n/a
48	CTCF	chr9:43187294-43187493	Lung_OC	lung:	n/a	chr9:43187379-43187397 chr9:43187380-43187396 chr9:43187381-43187394 chr9:43187374-43187395 chr9:43187384-43187392
49	CTCF	chr9:43187257-43187520	K562	blood:	n/a	chr9:43187379-43187397 chr9:43187380-43187396 chr9:43187381-43187394 chr9:43187374-43187395 chr9:43187384-43187392
50	CTCF	chr9:43187282-43187533	Spleen_OC	spleen:	n/a	chr9:43187379-43187397 chr9:43187380-43187396 chr9:43187381-43187394 chr9:43187374-43187395 chr9:43187384-43187392

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD20A3-7	chr9:43177211-43177295	NONHSAT131355
2	lnc-ANKRD20A3-7	chr9:43179365-43179407	NONHSAT131355
3	lnc-ANKRD20A3-7	chr9:43178104-43178145	NONHSAT131355
4	lnc-ANKRD20A3-7	chr9:43177955-43178014	NONHSAT131355
5	lnc-ANKRD20A3-7	chr9:43174019-43175549	NONHSAT131355
6	lnc-ANKRD20A3-1	chr9:43159864-43160103	XLOC_007693

Variant related genes	Relation type
MEP1AP3	TF binding region
ENSG00000236322	TF binding region
ENSG00000224303	TF binding region

Extended variants
information (count: 66 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549791038	chr9:43160093-43160094	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
2	rs571447656	chr9:43160094-43160095	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
3	rs538423973	chr9:43160095-43160096	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
4	rs71489728	chr9:43160101-43160102	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
5	rs547882489	chr9:43160105-43160106	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs565793049	chr9:43160133-43160134	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs536248368	chr9:43160266-43160267	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs554592706	chr9:43160270-43160271	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs576020241	chr9:43160274-43160275	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs374180231	chr9:43160284-43160285	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs558967517	chr9:43160291-43160292	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs376265697	chr9:43160297-43160298	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs541232315	chr9:43160320-43160321	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs181114577	chr9:43160332-43160333	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs572125003	chr9:43160344-43160345	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs542733207	chr9:43160347-43160348	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs4515663	chr9:43160358-43160359	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs560900994	chr9:43160386-43160387	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs10117965	chr9:43160387-43160388	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs374501601	chr9:43160442-43160443	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs4413896	chr9:43160458-43160459	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs565564810	chr9:43160463-43160464	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs531310664	chr9:43160470-43160471	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs4413897	chr9:43160490-43160491	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs543721904	chr9:43160510-43160511	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs564996560	chr9:43160511-43160512	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs532343695	chr9:43160528-43160529	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs368948870	chr9:43160536-43160537	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs547227655	chr9:43160574-43160575	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs565537417	chr9:43160659-43160660	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs145693405	chr9:43160671-43160672	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs200532641	chr9:43160684-43160685	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs371817249	chr9:43160685-43160686	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs530175453	chr9:43160701-43160702	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs11262141	chr9:43162228-43162229	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs10121785	chr9:43162314-43162315	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs62553536	chr9:43162860-43162861	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs370608977	chr9:43162877-43162878	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs4929535	chr9:43162963-43162964	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs554711087	chr9:43162968-43162969	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs576005325	chr9:43162990-43162991	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs537144465	chr9:43162996-43162997	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs558310589	chr9:43163035-43163036	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs4929536	chr9:43163048-43163049	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs201228810	chr9:43163049-43163050	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs568750939	chr9:43174361-43174362	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs549580466	chr9:43174379-43174380	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs200440717	chr9:43174380-43174381	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs567786288	chr9:43174411-43174412	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs3120055	chr9:43174652-43174653	Inactive region	lncRNA	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: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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