Variant report

Variant	esv3483931
Chromosome Location	chr9:43316056-43392854
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:263)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:263 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr9:43392171-43392418	GM12878	blood:	n/a	n/a
2	BATF	chr9:43391498-43391789	GM12878	blood:	n/a	n/a
3	BATF	chr9:43374503-43374725	GM12878	blood:	n/a	n/a
4	BATF	chr9:43380741-43381310	GM12878	blood:	n/a	n/a
5	BATF	chr9:43391601-43391805	GM12878	blood:	n/a	n/a
6	BATF	chr9:43369194-43369353	GM12878	blood:	n/a	n/a
7	BATF	chr9:43380711-43381300	GM12878	blood:	n/a	n/a
8	BCL11A	chr9:43392237-43392400	GM12878	blood:	n/a	n/a
9	BCL11A	chr9:43380719-43381302	GM12878	blood:	n/a	n/a
10	BCL11A	chr9:43368498-43368743	GM12878	blood:	n/a	n/a
11	BCL11A	chr9:43374447-43374685	GM12878	blood:	n/a	n/a
12	BCL11A	chr9:43380710-43381295	GM12878	blood:	n/a	n/a
13	BCL11A	chr9:43374467-43374767	GM12878	blood:	n/a	n/a
14	CTCF	chr9:43392735-43392833	GM10248	blood:	n/a	n/a
15	CTCF	chr9:43335462-43335495	A549	lung:	n/a	n/a
16	CTCF	chr9:43392242-43392450	K562	blood:	n/a	n/a
17	CTCF	chr9:43341417-43341534	Fibrobl	skin:	n/a	n/a
18	CTCF	chr9:43392340-43392490	HUVEC	blood vessel:	n/a	n/a
19	CTCF	chr9:43392340-43392490	NHEK	skin:	n/a	n/a
20	CTCF	chr9:43392340-43392490	GM12875	blood:	n/a	n/a
21	CTCF	chr9:43341264-43341654	A549	lung:	n/a	n/a
22	CTCF	chr9:43392314-43392389	GM19239	blood:	n/a	n/a
23	CTCF	chr9:43392340-43392490	HA-sp	spinal cord:	n/a	n/a
24	CTCF	chr9:43341435-43341538	GM19238	blood:	n/a	n/a
25	CTCF	chr9:43392340-43392490	GM12873	blood:	n/a	n/a
26	CTCF	chr9:43392272-43392395	HUVEC	blood vessel:	n/a	n/a
27	CTCF	chr9:43392327-43392393	A549	lung:	n/a	n/a
28	CTCF	chr9:43392320-43392470	GM06990	blood:	n/a	n/a
29	CTCF	chr9:43341363-43341597	K562	blood:	n/a	n/a
30	CTCF	chr9:43392384-43392387	K562	blood:	n/a	n/a
31	CTCF	chr9:43341326-43341673	K562	blood:	n/a	n/a
32	CTCF	chr9:43341343-43341666	Spleen_OC	spleen:	n/a	n/a
33	CTCF	chr9:43321020-43321053	GM13977	blood:	n/a	n/a
34	CTCF	chr9:43325974-43326076	Kidney_OC	kidney:	n/a	n/a
35	CTCF	chr9:43321036-43321129	Medullo	brain:	n/a	n/a
36	CTCF	chr9:43321016-43321108	GM10266	blood:	n/a	n/a
37	CTCF	chr9:43392380-43392530	GM12864	blood:	n/a	n/a
38	CTCF	chr9:43392340-43392490	HEK293	kidney:	n/a	n/a
39	CTCF	chr9:43392380-43392530	GM12872	blood:	n/a	n/a
40	CTCF	chr9:43392154-43392496	K562	blood:	n/a	n/a
41	CTCF	chr9:43341383-43341644	Kidney_OC	kidney:	n/a	n/a
42	CTCF	chr9:43392340-43392490	GM12864	blood:	n/a	n/a
43	CTCF	chr9:43341412-43341569	GM12892	blood:	n/a	n/a
44	CTCF	chr9:43392380-43392530	GM12871	blood:	n/a	n/a
45	CTCF	chr9:43320771-43321249	A549	lung:	n/a	n/a
46	CTCF	chr9:43341411-43341567	Pancreas_OC	pancreas:	n/a	n/a
47	CTCF	chr9:43392360-43392510	HEK293	kidney:	n/a	n/a
48	CTCF	chr9:43321067-43321088	GM19239	blood:	n/a	n/a
49	CTCF	chr9:43392129-43392475	A549	lung:	n/a	n/a
50	CTCF	chr9:43374926-43375005	A549	lung:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD20A3-11	chr9:43319264-43319576	NONHSAT131357
2	lnc-ANKRD20A3-11	chr9:43318619-43318952	NONHSAT131357

No data

Variant related genes	Relation type
ENSG00000224828	TF binding region

Extended variants
information (count: 51 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587603954	chr9:43316075-43316076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs1932695	chr9:43316076-43316077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs587667172	chr9:43316082-43316083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138292198	chr9:43316090-43316091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs587746810	chr9:43316098-43316099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs587622476	chr9:43316116-43316117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs587704220	chr9:43316120-43316121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs2321349	chr9:43316132-43316133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs587732131	chr9:43316136-43316137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs587613841	chr9:43316138-43316139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs587687275	chr9:43316147-43316148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183561040	chr9:43316156-43316157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs587645960	chr9:43316160-43316161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs188293886	chr9:43316178-43316179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs587774294	chr9:43316189-43316190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs587662022	chr9:43316194-43316195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs587693476	chr9:43320794-43320795	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs587755059	chr9:43321091-43321092	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs587649206	chr9:43321094-43321095	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs35220583	chr9:43321123-43321124	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs587648854	chr9:43321125-43321126	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs369903164	chr9:43321126-43321127	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs139335175	chr9:43321140-43321141	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs55977173	chr9:43321166-43321167	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs147502530	chr9:43321180-43321181	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs146756550	chr9:43376645-43376646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs140976576	chr9:43376717-43376718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs62556894	chr9:43376727-43376728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs201453525	chr9:43376729-43376730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs587763897	chr9:43376730-43376731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs587640038	chr9:43376764-43376765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs587689421	chr9:43376765-43376766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs182580796	chr9:43376782-43376783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs137934037	chr9:43376810-43376811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs149463793	chr9:43376822-43376823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs587731510	chr9:43376874-43376875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs587627709	chr9:43376886-43376887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs587664059	chr9:43376890-43376891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs587744066	chr9:43376915-43376916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs587599280	chr9:43377005-43377006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs587678207	chr9:43377006-43377007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs587732087	chr9:43377020-43377021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs587613469	chr9:43377036-43377037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs374844648	chr9:43377038-43377039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs34092735	chr9:43377191-43377192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs71286163	chr9:43377204-43377205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs34059611	chr9:43377207-43377208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs587671204	chr9:43377274-43377275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189880896	chr9:43377306-43377307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs587626437	chr9:43377309-43377310	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:43316000-43316200	Enhancers	Fetal Brain Male	brain
2	chr9:43376600-43377400	Enhancers	Primary B cells from peripheral blood	blood

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