Variant report

Variant	esv3333200
Chromosome Location	chr6:26860673-26865171
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:184)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr6:26862361-26862777	K562	blood:	n/a	n/a
2	CEBPB	chr6:26862466-26862687	K562	blood:	n/a	n/a
3	CEBPB	chr6:26862399-26862800	K562	blood:	n/a	n/a
4	CEBPD	chr6:26862389-26862785	K562	blood:	n/a	n/a
5	CTCF	chr6:26862352-26862698	K562	blood:	n/a	n/a
6	CTCF	chr6:26862255-26862659	K562	blood:	n/a	n/a
7	CTCF	chr6:26862290-26862757	K562	blood:	n/a	n/a
8	GABPA	chr6:26863432-26863596	Hela-S3	cervix:	n/a	n/a
9	NR2F2	chr6:26862424-26862771	K562	blood:	n/a	n/a
10	PAX5	chr6:26863298-26863693	GM12878	blood:	n/a	n/a
11	PAX5	chr6:26863349-26863606	GM12878	blood:	n/a	n/a
12	POLR2A	chr6:26863255-26863690	GM12878	blood:	n/a	n/a
13	POLR2A	chr6:26863305-26863635	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr6:26861030-26861150	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr6:26863356-26863615	H1-hESC	embryonic stem cell:	n/a	n/a
16	POU2F2	chr6:26863307-26863568	GM12878	blood:	n/a	n/a
17	SPI1	chr6:26862173-26862317	K562	blood:	n/a	n/a
18	TCF12	chr6:26863403-26863652	GM12878	blood:	n/a	n/a
19	TCF3	chr6:26863329-26863677	GM12878	blood:	n/a	chr6:26863443-26863453
20	ZBTB33	chr6:26863325-26863723	K562	blood:	n/a	n/a
21	ZBTB33	chr6:26863411-26863760	K562	blood:	n/a	chr6:26863723-26863732

(count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:26863335-26863385	PANC-1	pancreas:	n/a
2	chr6:26863335-26863385	PANC-1	pancreas:	n/a
3	chr6:26863643-26863693	GM06990	blood:	n/a
4	chr6:26863335-26863385	T-47D	breast:	n/a
5	chr6:26863335-26863385	H1-hESC	embryonic stem cell:	embryo
6	chr6:26863335-26863385	HAEpiC	amniotic membrane:	n/a
7	chr6:26863643-26863693	MCF10A-Er-Src	breast:	n/a
8	chr6:26863335-26863385	NT2-D1	testis:	n/a
9	chr6:26863335-26863385	K562	blood:	n/a
10	chr6:26863335-26863385	SKMC	muscle:	n/a
11	chr6:26864778-26864828	AG04449	skin:	fetal
12	chr6:26863643-26863693	HCT-116	colon:	n/a
13	chr6:26863643-26863693	HMEC	breast:	n/a
14	chr6:26863335-26863385	HIPEpiC	eye:	n/a
15	chr6:26864778-26864828	SK-N-MC	brain:	n/a
16	chr6:26863643-26863693	NT2-D1	testis:	n/a
17	chr6:26863335-26863385	HNPCEpiC	eye:	n/a
18	chr6:26863335-26863385	GM06990	blood:	n/a
19	chr6:26864778-26864828	H1-hESC	embryonic stem cell:	embryo
20	chr6:26863643-26863693	BJ	skin:	n/a
21	chr6:26864778-26864828	PrEC	prostate:	n/a
22	chr6:26863643-26863693	HPAEpiC	pulmonary alveolar:	n/a
23	chr6:26863335-26863385	Hela-S3	cervix:	n/a
24	chr6:26864778-26864828	HCT-116	colon:	n/a
25	chr6:26863335-26863385	NB4	blood:	n/a
26	chr6:26864778-26864828	A549	lung:	n/a
27	chr6:26863643-26863693	GM19239	blood:	n/a
28	chr6:26863643-26863693	Hepatocyte	liver:	n/a
29	chr6:26864778-26864828	ovcar-3	ovarian:	n/a
30	chr6:26863335-26863385	GM12878	blood:	n/a
31	chr6:26863335-26863385	A549	lung:	n/a
32	chr6:26864778-26864828	HRPEpiC	eye:	n/a
33	chr6:26863643-26863693	HL-60	blood:	n/a
34	chr6:26863335-26863385	AoSMC	blood vessel:	n/a
35	chr6:26864778-26864828	HAEpiC	amniotic membrane:	n/a
36	chr6:26863643-26863693	ovcar-3	ovarian:	n/a
37	chr6:26864778-26864828	SK-N-SH	brain:	n/a
38	chr6:26863335-26863385	HCT-116	colon:	n/a
39	chr6:26864778-26864828	CMK	blood:	n/a
40	chr6:26863643-26863693	HRCEpiC	kidney:	n/a
41	chr6:26864778-26864828	HNPCEpiC	eye:	n/a
42	chr6:26864778-26864828	GM12878	blood:	n/a
43	chr6:26863643-26863693	PANC-1	pancreas:	n/a
44	chr6:26864778-26864828	ProgFib	skin:	n/a
45	chr6:26863335-26863385	GM19239	blood:	n/a
46	chr6:26864778-26864828	SK-N-SH_RA	brain:	n/a
47	chr6:26864778-26864828	HepG2	liver:	n/a
48	chr6:26863643-26863693	A549	lung:	n/a
49	chr6:26864778-26864828	HEEpiC	esophagus:	n/a
50	chr6:26864778-26864828	IMR90	lung:	fetal

No data

Variant related genes	Relation type
GUSBP2	TF binding region
ENSG00000243307	TF binding region
GUSBP2	CpG island
ENSG00000243307	CpG island

Extended variants
information (count: 174 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:174 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189625899	chr6:26860687-26860688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs377049173	chr6:26860691-26860692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs9688582	chr6:26860726-26860727	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs9295711	chr6:26860838-26860839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181954490	chr6:26860853-26860854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543254756	chr6:26860939-26860940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs9766754	chr6:26861038-26861039	Weak transcription	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs532681713	chr6:26861053-26861054	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs187388328	chr6:26861055-26861056	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs9767226	chr6:26861160-26861161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569356339	chr6:26861242-26861243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538336127	chr6:26861369-26861370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548435500	chr6:26861508-26861509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182932089	chr6:26861537-26861538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533910661	chr6:26861548-26861549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554221972	chr6:26861554-26861555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573130633	chr6:26861555-26861556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538935242	chr6:26861578-26861579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185992049	chr6:26861600-26861601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551738038	chr6:26861601-26861602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144450702	chr6:26861611-26861612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190018201	chr6:26861613-26861614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560846170	chr6:26861615-26861616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574498020	chr6:26861626-26861627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146108121	chr6:26861645-26861646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182695918	chr6:26861905-26861906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187566306	chr6:26861941-26861942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs199837414	chr6:26861954-26861955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371533766	chr6:26861975-26861976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552501386	chr6:26861981-26861982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563089748	chr6:26861988-26861989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531847164	chr6:26862036-26862037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192726417	chr6:26862058-26862059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs9800848	chr6:26862061-26862062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs9800497	chr6:26862063-26862064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs9800849	chr6:26862069-26862070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568426465	chr6:26862135-26862136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs527792985	chr6:26862194-26862195	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs9295712	chr6:26862210-26862211	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs547764392	chr6:26862234-26862235	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs570904129	chr6:26862263-26862264	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs538925568	chr6:26862264-26862265	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs560303305	chr6:26862288-26862289	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs376288046	chr6:26862321-26862322	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs569011139	chr6:26862323-26862324	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs9767656	chr6:26862350-26862351	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs537616137	chr6:26862363-26862364	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs9689815	chr6:26862399-26862400	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs9767657	chr6:26862429-26862430	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs9767658	chr6:26862431-26862432	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26838000-26866200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr6:26841400-26866200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:26844400-26865800	Weak transcription	Ovary	ovary
4	chr6:26844400-26872000	Weak transcription	Fetal Intestine Small	intestine
5	chr6:26845000-26864200	Weak transcription	Pancreas	Pancrea
6	chr6:26849200-26866800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr6:26849400-26866600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:26849800-26864200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:26850400-26865000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr6:26852000-26866200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:26853600-26864000	Weak transcription	Fetal Stomach	stomach
12	chr6:26861400-26865800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr6:26862000-26862200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:26862200-26866600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr6:26864000-26864600	ZNF genes & repeats	Fetal Stomach	stomach
16	chr6:26864200-26864600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr6:26864200-26864600	Enhancers	Pancreas	Pancrea
18	chr6:26864400-26866600	Weak transcription	Fetal Muscle Trunk	muscle

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