Variant report

Variant	esv3450767
Chromosome Location	chr9:43029956-43035454
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	chr9:43030279-43030781	GM12878	blood:	n/a	n/a
2	BCL11A	chr9:43034149-43034320	GM12878	blood:	n/a	n/a
3	CTCF	chr9:43030393-43030580	LNCaP	prostate:	n/a	chr9:43030535-43030556 chr9:43030482-43030495 chr9:43030479-43030497 chr9:43030481-43030502
4	CTCF	chr9:43030446-43030545	Pancreas_OC	pancreas:	n/a	chr9:43030482-43030495 chr9:43030479-43030497 chr9:43030481-43030502
5	CTCF	chr9:43030398-43030570	GM13977	blood:	n/a	chr9:43030535-43030556 chr9:43030482-43030495 chr9:43030479-43030497 chr9:43030481-43030502
6	CTCF	chr9:43030396-43030564	GM10266	blood:	n/a	chr9:43030535-43030556 chr9:43030482-43030495 chr9:43030479-43030497 chr9:43030481-43030502
7	CTCF	chr9:43030276-43030617	A549	lung:	n/a	chr9:43030535-43030556 chr9:43030482-43030495 chr9:43030479-43030497 chr9:43030481-43030502
8	CTCF	chr9:43030427-43030510	GM10248	blood:	n/a	chr9:43030482-43030495 chr9:43030479-43030497 chr9:43030481-43030502
9	CTCF	chr9:43030265-43030681	A549	lung:	n/a	chr9:43030535-43030556 chr9:43030482-43030495 chr9:43030479-43030497 chr9:43030481-43030502
10	CTCF	chr9:43030219-43030751	K562	blood:	n/a	chr9:43030535-43030556 chr9:43030482-43030495 chr9:43030479-43030497 chr9:43030481-43030502
11	CTCF	chr9:43030373-43030536	LNCaP	prostate:	n/a	chr9:43030482-43030495 chr9:43030479-43030497 chr9:43030481-43030502
12	CTCF	chr9:43030430-43030503	GM20000	blood:	n/a	chr9:43030482-43030495 chr9:43030479-43030497 chr9:43030481-43030502
13	CTCF	chr9:43030443-43030512	Medullo	brain:	n/a	chr9:43030482-43030495 chr9:43030479-43030497 chr9:43030481-43030502
14	CTCF	chr9:43030351-43030584	A549	lung:	n/a	chr9:43030535-43030556 chr9:43030482-43030495 chr9:43030479-43030497 chr9:43030481-43030502
15	CTCF	chr9:43030233-43030716	K562	blood:	n/a	chr9:43030535-43030556 chr9:43030482-43030495 chr9:43030479-43030497 chr9:43030481-43030502
16	CTCF	chr9:43030301-43030638	K562	blood:	n/a	chr9:43030535-43030556 chr9:43030482-43030495 chr9:43030479-43030497 chr9:43030481-43030502
17	CTCF	chr9:43030417-43030552	Spleen_OC	spleen:	n/a	chr9:43030482-43030495 chr9:43030479-43030497 chr9:43030481-43030502
18	CTCF	chr9:43030256-43030676	A549	lung:	n/a	chr9:43030535-43030556 chr9:43030482-43030495 chr9:43030479-43030497 chr9:43030481-43030502
19	CTCF	chr9:43030412-43030552	GM13976	blood:	n/a	chr9:43030482-43030495 chr9:43030479-43030497 chr9:43030481-43030502
20	CTCF	chr9:43030415-43030512	Kidney_OC	kidney:	n/a	chr9:43030482-43030495 chr9:43030479-43030497 chr9:43030481-43030502
21	EBF1	chr9:43030340-43030683	GM12878	blood:	n/a	n/a
22	FOSL2	chr9:43033453-43033684	HepG2	liver:	n/a	n/a
23	FOSL2	chr9:43030262-43030727	HepG2	liver:	n/a	chr9:43030395-43030404
24	IRF4	chr9:43030233-43030832	GM12878	blood:	n/a	n/a
25	IRF4	chr9:43030255-43030799	GM12878	blood:	n/a	n/a
26	JUND	chr9:43034847-43034964	HepG2	liver:	n/a	n/a
27	JUND	chr9:43030355-43030604	HepG2	liver:	n/a	chr9:43030395-43030404
28	PAX5	chr9:43035047-43035427	GM12878	blood:	n/a	n/a
29	PAX5	chr9:43029989-43030136	GM12878	blood:	n/a	n/a
30	PAX5	chr9:43035006-43035547	GM12878	blood:	n/a	n/a
31	PAX5	chr9:43030227-43030919	GM12878	blood:	n/a	n/a
32	PAX5	chr9:43031968-43032386	GM12878	blood:	n/a	n/a
33	PAX5	chr9:43030163-43030763	GM12878	blood:	n/a	n/a
34	PAX5	chr9:43034730-43034959	GM12878	blood:	n/a	n/a
35	PBX3	chr9:43030354-43030628	GM12878	blood:	n/a	chr9:43030394-43030403
36	POU2F2	chr9:43030375-43030576	GM12878	blood:	n/a	n/a
37	POU2F2	chr9:43032808-43033446	GM12878	blood:	n/a	n/a
38	POU2F2	chr9:43034548-43035739	GM12878	blood:	n/a	n/a
39	POU2F2	chr9:43029459-43030933	GM12878	blood:	n/a	chr9:43030029-43030039 chr9:43030030-43030037 chr9:43030029-43030039 chr9:43030026-43030041 chr9:43030027-43030038 chr9:43030027-43030038 chr9:43030029-43030038 chr9:43030024-43030042 chr9:43030028-43030038
40	REST	chr9:43030433-43030796	HepG2	liver:	n/a	chr9:43030622-43030631
41	REST	chr9:43030170-43031563	H1-hESC	embryonic stem cell:	n/a	chr9:43031042-43031050 chr9:43030622-43030631
42	REST	chr9:43030351-43030826	PFSK-1	brain:	n/a	chr9:43030622-43030631
43	REST	chr9:43030381-43030809	U87	brain:	n/a	chr9:43030622-43030631
44	REST	chr9:43030471-43030758	SK-N-SH	brain:	n/a	chr9:43030622-43030631
45	REST	chr9:43030344-43030878	GM12878	blood:	n/a	chr9:43030622-43030631
46	REST	chr9:43030202-43030819	PANC-1	pancreas:	n/a	chr9:43030622-43030631
47	REST	chr9:43030301-43030792	SK-N-SH	brain:	n/a	chr9:43030622-43030631
48	REST	chr9:43030421-43030770	HepG2	liver:	n/a	chr9:43030622-43030631
49	REST	chr9:43030378-43030808	HepG2	liver:	n/a	chr9:43030622-43030631
50	REST	chr9:43030385-43030741	SK-N-SH	brain:	n/a	chr9:43030622-43030631

Variant related genes	Relation type
CYP4F59P	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569271883	chr9:43033028-43033029	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs371303602	chr9:43034440-43034441	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs375853478	chr9:43034456-43034457	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs539433417	chr9:43034622-43034623	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs144503838	chr9:43034640-43034641	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs558513960	chr9:43034646-43034647	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs573548460	chr9:43034661-43034662	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs201737198	chr9:43034687-43034688	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs534407816	chr9:43034698-43034699	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs111725356	chr9:43034784-43034785	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs111796533	chr9:43034822-43034823	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs555956998	chr9:43034948-43034949	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs574451230	chr9:43034949-43034950	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs541949658	chr9:43034954-43034955	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs563222010	chr9:43034957-43034958	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs575224566	chr9:43034966-43034967	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs545365970	chr9:43034968-43034969	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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

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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