Variant report

Variant	esv3430158
Chromosome Location	chr9:42993656-43012254
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	BCL11A	chr9:43010839-43011125	GM12878	blood:	n/a	n/a
2	BHLHE40	chr9:43005488-43005720	HepG2	liver:	n/a	n/a
3	CTCF	chr9:43008055-43008116	A549	lung:	n/a	n/a
4	CTCF	chr9:43009806-43009867	MCF-7	breast:	n/a	n/a
5	CTCF	chr9:43009695-43009954	K562	blood:	n/a	n/a
6	CTCF	chr9:43009817-43009842	MCF-7	breast:	n/a	n/a
7	CTCF	chr9:43008031-43008414	K562	blood:	n/a	chr9:43008198-43008211
8	CTCF	chr9:43009664-43009970	A549	lung:	n/a	n/a
9	CTCF	chr9:43008107-43008299	K562	blood:	n/a	chr9:43008198-43008211
10	CTCF	chr9:43009671-43009963	K562	blood:	n/a	n/a
11	CTCF	chr9:43009583-43010027	A549	lung:	n/a	n/a
12	CTCF	chr9:43009698-43010031	K562	blood:	n/a	n/a
13	EBF1	chr9:43005399-43005567	GM12878	blood:	n/a	n/a
14	EBF1	chr9:42997543-42998007	GM12878	blood:	n/a	chr9:42997727-42997737 chr9:42997725-42997738 chr9:42997727-42997736
15	EBF1	chr9:43010325-43010536	GM12878	blood:	n/a	n/a
16	EBF1	chr9:43010718-43011359	GM12878	blood:	n/a	chr9:43011232-43011241 chr9:43011231-43011241 chr9:43011230-43011243
17	EBF1	chr9:43010723-43011399	GM12878	blood:	n/a	chr9:43011232-43011241 chr9:43011231-43011241 chr9:43011230-43011243
18	EP300	chr9:43011667-43011887	GM12878	blood:	n/a	n/a
19	EP300	chr9:42996997-42997258	GM12878	blood:	n/a	chr9:42997013-42997027
20	EP300	chr9:43012032-43012233	GM12878	blood:	n/a	n/a
21	EP300	chr9:42996688-42996914	GM12878	blood:	n/a	chr9:42996739-42996753
22	FOSL2	chr9:43010597-43011129	HepG2	liver:	n/a	n/a
23	FOSL2	chr9:43009750-43010194	HepG2	liver:	n/a	n/a
24	FOXA1	chr9:43009782-43010085	HepG2	liver:	n/a	n/a
25	FOXA1	chr9:42994929-42995395	HepG2	liver:	n/a	chr9:42995294-42995306
26	GABPA	chr9:43010043-43010166	Hela-S3	cervix:	n/a	n/a
27	GABPA	chr9:42997017-42997287	Hela-S3	cervix:	n/a	n/a
28	GABPA	chr9:43011679-43011858	Hela-S3	cervix:	n/a	n/a
29	IRF4	chr9:43010205-43010531	GM12878	blood:	n/a	n/a
30	IRF4	chr9:43010629-43011032	GM12878	blood:	n/a	n/a
31	IRF4	chr9:42995458-42995790	GM12878	blood:	n/a	n/a
32	JUND	chr9:42997024-42997209	HepG2	liver:	n/a	n/a
33	JUND	chr9:43010054-43010227	HepG2	liver:	n/a	n/a
34	PAX5	chr9:43010047-43010667	GM12878	blood:	n/a	n/a
35	PAX5	chr9:43007983-43008415	GM12878	blood:	n/a	n/a
36	PAX5	chr9:43012024-43012177	GM12878	blood:	n/a	n/a
37	PAX5	chr9:43010705-43010865	GM12878	blood:	n/a	n/a
38	PAX5	chr9:43009943-43011170	GM12878	blood:	n/a	n/a
39	PAX5	chr9:43009845-43011243	GM12878	blood:	n/a	n/a
40	PAX5	chr9:43010882-43011030	GM12878	blood:	n/a	n/a
41	PAX5	chr9:42998007-42998186	GM12878	blood:	n/a	n/a
42	PAX5	chr9:43008039-43008379	GM12878	blood:	n/a	n/a
43	PAX5	chr9:43010186-43010554	GM12878	blood:	n/a	n/a
44	PAX5	chr9:43004562-43004984	GM12878	blood:	n/a	n/a
45	PAX5	chr9:43010723-43011104	GM12878	blood:	n/a	n/a
46	PAX5	chr9:42996771-42996923	GM12878	blood:	n/a	n/a
47	PAX5	chr9:42997030-42997326	GM12878	blood:	n/a	n/a
48	PAX5	chr9:43004668-43004949	GM12878	blood:	n/a	n/a
49	PAX5	chr9:43005318-43005725	GM12878	blood:	n/a	n/a
50	PAX5	chr9:43011621-43011850	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000269788	TF binding region
ENSG00000269225	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529701258	chr9:43005709-43005710	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs376662007	chr9:43006443-43006444	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs111917230	chr9:43008056-43008057	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs11787706	chr9:43009822-43009823	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs201479534	chr9:43009824-43009825	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs2747830	chr9:43009826-43009827	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs62551775	chr9:43009842-43009843	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs11795193	chr9:43009892-43009893	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs201706098	chr9:43010283-43010284	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs111254380	chr9:43010327-43010328	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs62551777	chr9:43010510-43010511	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs62539163	chr9:43010551-43010552	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs62551779	chr9:43010657-43010658	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs62539162	chr9:43011013-43011014	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs564653562	chr9:43011054-43011055	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs372886088	chr9:43011097-43011098	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs528691882	chr9:43011176-43011177	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs199844458	chr9:43011203-43011204	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs199502693	chr9:43011257-43011258	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs139152429	chr9:43011314-43011315	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs371371593	chr9:43011392-43011393	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs376693350	chr9:43011393-43011394	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs367848580	chr9:43011395-43011396	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs191707728	chr9:43011623-43011624	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs369668821	chr9:43011648-43011649	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs71244270	chr9:43011696-43011697	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs377753631	chr9:43011697-43011698	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs62551782	chr9:43011739-43011740	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs62551783	chr9:43011746-43011747	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs569866158	chr9:43011748-43011749	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs71244271	chr9:43011749-43011750	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs62537658	chr9:43011759-43011760	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs530791635	chr9:43011788-43011789	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs79481879	chr9:43011841-43011842	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs336881	chr9:43011848-43011849	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs552185723	chr9:43011876-43011877	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs375705183	chr9:43011889-43011890	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs80172362	chr9:43011897-43011898	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs74891124	chr9:43011934-43011935	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs77784273	chr9:43011936-43011937	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs374260473	chr9:43011997-43011998	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs62551786	chr9:43012110-43012111	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
Breast cancer	22522925	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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