Variant report

Variant	nsv973268
Chromosome Location	chr9:43119485-43128075
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	chr9:43122109-43123723	GM12878	blood:	n/a	n/a
2	BATF	chr9:43120659-43120859	GM12878	blood:	n/a	n/a
3	BATF	chr9:43125694-43125939	GM12878	blood:	n/a	n/a
4	BATF	chr9:43121791-43122098	GM12878	blood:	n/a	n/a
5	BATF	chr9:43123789-43123988	GM12878	blood:	n/a	n/a
6	BATF	chr9:43122320-43122956	GM12878	blood:	n/a	n/a
7	BATF	chr9:43127650-43128051	GM12878	blood:	n/a	n/a
8	BATF	chr9:43121853-43122095	GM12878	blood:	n/a	n/a
9	BATF	chr9:43123059-43123716	GM12878	blood:	n/a	n/a
10	BATF	chr9:43127672-43127998	GM12878	blood:	n/a	n/a
11	BCL11A	chr9:43123263-43123707	GM12878	blood:	n/a	n/a
12	BCL11A	chr9:43123313-43123640	GM12878	blood:	n/a	n/a
13	BCL11A	chr9:43124224-43124483	GM12878	blood:	n/a	n/a
14	BCL11A	chr9:43127700-43127994	GM12878	blood:	n/a	chr9:43127900-43127909 chr9:43127967-43127976
15	BCL11A	chr9:43121842-43123070	GM12878	blood:	n/a	chr9:43122563-43122572 chr9:43122598-43122607 chr9:43122932-43122941 chr9:43122510-43122519 chr9:43122933-43122942
16	BCL11A	chr9:43123751-43123979	GM12878	blood:	n/a	n/a
17	BCL11A	chr9:43127637-43128031	GM12878	blood:	n/a	chr9:43127900-43127909 chr9:43127967-43127976
18	BCL11A	chr9:43122305-43122890	GM12878	blood:	n/a	chr9:43122563-43122572 chr9:43122598-43122607 chr9:43122510-43122519
19	BCL11A	chr9:43125681-43125880	GM12878	blood:	n/a	n/a
20	CTCF	chr9:43125733-43125767	Lung_OC	lung:	n/a	n/a
21	EBF1	chr9:43120544-43120976	GM12878	blood:	n/a	n/a
22	EBF1	chr9:43121817-43122094	GM12878	blood:	n/a	n/a
23	EBF1	chr9:43123633-43123891	GM12878	blood:	n/a	chr9:43123782-43123793 chr9:43123783-43123792 chr9:43123783-43123793
24	EBF1	chr9:43122360-43122822	GM12878	blood:	n/a	n/a
25	EBF1	chr9:43122348-43122834	GM12878	blood:	n/a	n/a
26	EBF1	chr9:43123615-43123815	GM12878	blood:	n/a	chr9:43123782-43123793 chr9:43123783-43123792 chr9:43123783-43123793
27	EBF1	chr9:43123304-43123615	GM12878	blood:	n/a	n/a
28	EP300	chr9:43123026-43123279	GM12878	blood:	n/a	n/a
29	EP300	chr9:43122314-43122942	GM12878	blood:	n/a	chr9:43122932-43122941
30	EP300	chr9:43121861-43122138	GM12878	blood:	n/a	chr9:43121876-43121890 chr9:43121870-43121884
31	EP300	chr9:43122598-43122804	GM12878	blood:	n/a	n/a
32	EP300	chr9:43127675-43127978	GM12878	blood:	n/a	n/a
33	EP300	chr9:43125624-43125951	GM12878	blood:	n/a	n/a
34	EP300	chr9:43122384-43122788	GM12878	blood:	n/a	n/a
35	FOSL2	chr9:43124188-43124542	HepG2	liver:	n/a	chr9:43124393-43124404
36	FOSL2	chr9:43121841-43122177	HepG2	liver:	n/a	n/a
37	FOSL2	chr9:43123029-43123756	HepG2	liver:	n/a	n/a
38	FOSL2	chr9:43122329-43123756	HepG2	liver:	n/a	chr9:43122934-43122941 chr9:43122933-43122941 chr9:43122431-43122445
39	FOSL2	chr9:43122382-43122658	HepG2	liver:	n/a	chr9:43122431-43122445
40	FOSL2	chr9:43124246-43124575	HepG2	liver:	n/a	chr9:43124393-43124404
41	FOXA1	chr9:43125601-43125912	HepG2	liver:	n/a	n/a
42	FOXA1	chr9:43122972-43123791	HepG2	liver:	n/a	n/a
43	FOXM1	chr9:43122367-43122879	GM12878	blood:	n/a	n/a
44	GABPA	chr9:43123263-43123580	Hela-S3	cervix:	n/a	n/a
45	GATA2	chr9:43124578-43124815	K562	blood:	n/a	chr9:43124794-43124806 chr9:43124797-43124804 chr9:43124797-43124804 chr9:43124797-43124804 chr9:43124795-43124805
46	GATA2	chr9:43122903-43123263	K562	blood:	n/a	chr9:43123243-43123253 chr9:43123212-43123219
47	IRF4	chr9:43127597-43128101	GM12878	blood:	n/a	n/a
48	IRF4	chr9:43121755-43122232	GM12878	blood:	n/a	n/a
49	IRF4	chr9:43120882-43121214	GM12878	blood:	n/a	n/a
50	IRF4	chr9:43127609-43128081	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
RNU6-538P	TF binding region

Extended variants
information (count: 57 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374591405	chr9:43123014-43123015	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs199548374	chr9:43123248-43123249	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs201050372	chr9:43123253-43123254	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs373477474	chr9:43123290-43123291	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs200444013	chr9:43123320-43123321	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs367968367	chr9:43123342-43123343	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs370157818	chr9:43123343-43123344	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs77814344	chr9:43123347-43123348	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs376495746	chr9:43123375-43123376	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs370462866	chr9:43123406-43123407	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs374169281	chr9:43123417-43123418	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs146297354	chr9:43123458-43123459	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs147963621	chr9:43123479-43123480	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs144242494	chr9:43123483-43123484	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs141842243	chr9:43123515-43123516	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs111873700	chr9:43123529-43123530	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs147734604	chr9:43123557-43123558	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs144822610	chr9:43123615-43123616	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs117646088	chr9:43123621-43123622	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs143228232	chr9:43123623-43123624	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs201638449	chr9:43123648-43123649	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs567974206	chr9:43123678-43123679	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs531837363	chr9:43123679-43123680	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs200110566	chr9:43123703-43123704	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs112698780	chr9:43123852-43123853	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs377008298	chr9:43123887-43123888	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs62552323	chr9:43123983-43123984	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs369500433	chr9:43124220-43124221	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs112665120	chr9:43124262-43124263	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs112768629	chr9:43124265-43124266	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs201093790	chr9:43124761-43124762	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs2991433	chr9:43125654-43125655	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs28368337	chr9:43125683-43125684	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs28488736	chr9:43125782-43125783	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs28615075	chr9:43125862-43125863	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs3132245	chr9:43125886-43125887	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs11496849	chr9:43126008-43126009	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs11496848	chr9:43126190-43126191	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs553268096	chr9:43126353-43126354	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs10909724	chr9:43127052-43127053	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs10909723	chr9:43127102-43127103	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs575037338	chr9:43127134-43127135	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs542061322	chr9:43127135-43127136	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs563955018	chr9:43127177-43127178	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs531004171	chr9:43127202-43127203	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs199845872	chr9:43127243-43127244	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs543578923	chr9:43127244-43127245	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs529951039	chr9:43127664-43127665	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs55787202	chr9:43127686-43127687	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs569871855	chr9:43127688-43127689	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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