Variant report

Variant	nsv965797
Chromosome Location	chr6:26897255-26909641
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	CTCF	chr6:26904189-26904284	GM10248	blood:	n/a	n/a
2	FOSL2	chr6:26901458-26901778	HepG2	liver:	n/a	n/a
3	FOXA1	chr6:26905860-26906268	HepG2	liver:	n/a	n/a
4	GABPA	chr6:26903407-26903595	Hela-S3	cervix:	n/a	n/a
5	GATA2	chr6:26902615-26903056	K562	blood:	n/a	n/a
6	GATA2	chr6:26903599-26904050	K562	blood:	n/a	n/a
7	GATA2	chr6:26909264-26909510	K562	blood:	n/a	n/a
8	HEY1	chr6:26909371-26909584	K562	blood:	n/a	n/a
9	IRF4	chr6:26909283-26909621	GM12878	blood:	n/a	chr6:26909578-26909592
10	MAFF	chr6:26905109-26905378	HepG2	liver:	n/a	chr6:26905222-26905240
11	MAFF	chr6:26905118-26905355	K562	blood:	n/a	chr6:26905222-26905240
12	MAFK	chr6:26905097-26905388	HepG2	liver:	n/a	chr6:26905223-26905238
13	MAFK	chr6:26905115-26905307	K562	blood:	n/a	chr6:26905223-26905238
14	MAFK	chr6:26905187-26905383	IMR90	lung:	n/a	chr6:26905223-26905238
15	MAFK	chr6:26905163-26905309	HepG2	liver:	n/a	chr6:26905223-26905238
16	PAX5	chr6:26909324-26909560	GM12878	blood:	n/a	n/a
17	PAX5	chr6:26909360-26909573	GM12878	blood:	n/a	n/a
18	POLR2A	chr6:26903072-26903414	GM12878	blood:	n/a	n/a
19	POLR2A	chr6:26903058-26903317	GM12878	blood:	n/a	n/a
20	POLR2A	chr6:26906589-26906820	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr6:26906038-26906332	GM12878	blood:	n/a	n/a
22	POLR2A	chr6:26909641-26910137	GM12878	blood:	n/a	n/a
23	POLR2A	chr6:26905982-26906243	GM12878	blood:	n/a	n/a
24	POLR2A	chr6:26909307-26909563	GM12878	blood:	n/a	n/a
25	POLR2A	chr6:26909225-26909637	GM12878	blood:	n/a	n/a
26	POLR2A	chr6:26903456-26903612	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr6:26904438-26904838	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr6:26904965-26905144	GM12878	blood:	n/a	n/a
29	POU2F2	chr6:26909257-26909493	GM12878	blood:	n/a	chr6:26909385-26909398
30	POU2F2	chr6:26909285-26909603	GM12878	blood:	n/a	chr6:26909385-26909398
31	SP1	chr6:26901594-26901945	HepG2	liver:	n/a	n/a
32	SP1	chr6:26901673-26901963	GM12878	blood:	n/a	n/a
33	SP1	chr6:26909327-26909636	GM12878	blood:	n/a	n/a
34	TCF12	chr6:26903402-26903561	GM12878	blood:	n/a	n/a
35	TCF3	chr6:26909354-26909594	GM12878	blood:	n/a	n/a
36	TCF3	chr6:26905938-26906176	GM12878	blood:	n/a	n/a
37	YY1	chr6:26901504-26901579	K562	blood:	n/a	n/a
38	ZBTB33	chr6:26903388-26903557	GM12878	blood:	n/a	n/a
39	ZBTB33	chr6:26903890-26904156	K562	blood:	n/a	n/a
40	ZBTB33	chr6:26903355-26903581	K562	blood:	n/a	n/a
41	ZBTB33	chr6:26903405-26903622	K562	blood:	n/a	n/a
42	ZBTB33	chr6:26909253-26909641	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
GUSBP2	TF binding region

Extended variants
information (count: 0)
Associated
traits (count: 101 )

No data

Variant related diseases (count:101)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Williams-beuren syndrome	16971481	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	21569311	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21509527	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:0 , 50 per page) page:

No data

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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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