Variant report

Variant	esv3472875
Chromosome Location	chr6:80556985-80570535
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr6:80568112-80568417	HepG2	liver:	n/a	chr6:80568252-80568263 chr6:80568250-80568261 chr6:80568250-80568263
2	CEBPB	chr6:80568169-80568390	IMR90	lung:	n/a	chr6:80568252-80568263 chr6:80568250-80568261 chr6:80568250-80568263
3	CTCF	chr6:80564940-80565090	HMF	breast:	n/a	n/a
4	CTCF	chr6:80564971-80565153	MCF-7	breast:	n/a	n/a
5	CTCF	chr6:80564900-80565050	HepG2	liver:	n/a	n/a
6	CTCF	chr6:80564969-80565081	SK-N-SH_RA	brain:	n/a	n/a
7	CTCF	chr6:80564960-80565110	Caco-2	colon:	n/a	n/a
8	CTCF	chr6:80564996-80565092	HUVEC	blood vessel:	n/a	n/a
9	CTCF	chr6:80564940-80565090	HEEpiC	esophagus:	n/a	n/a
10	CTCF	chr6:80564991-80565093	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr6:80565000-80565150	HEEpiC	esophagus:	n/a	n/a
12	CTCF	chr6:80564880-80565226	MCF-7	breast:	n/a	n/a
13	CTCF	chr6:80561752-80561860	GM20000	blood:	n/a	n/a
14	CTCF	chr6:80565000-80565150	HCT-116	colon:	n/a	n/a
15	CTCF	chr6:80564940-80565090	MCF-7	breast:	n/a	n/a
16	CTCF	chr6:80564916-80565264	MCF-7	breast:	n/a	n/a
17	CTCF	chr6:80564940-80565090	HMEC	breast:	n/a	n/a
18	CTCF	chr6:80565040-80565190	HPF	lung:	n/a	n/a
19	CTCF	chr6:80564900-80565050	RPTEC	kidney:	n/a	n/a
20	CTCF	chr6:80564860-80565010	HRPEpiC	eye:	n/a	n/a
21	CTCF	chr6:80564960-80565110	HCPEpiC	choroid plexus:	n/a	n/a
22	CTCF	chr6:80564991-80565133	MCF-7	breast:	n/a	n/a
23	ESR1	chr6:80568503-80568844	T-47D	breast:	n/a	n/a
24	ESR1	chr6:80568491-80568841	T-47D	breast:	n/a	n/a
25	ESR1	chr6:80568562-80568817	T-47D	breast:	n/a	n/a
26	GATA3	chr6:80568592-80568947	MCF-7	breast:	n/a	n/a
27	MAZ	chr6:80563629-80563671	HepG2	liver:	n/a	n/a
28	MYC	chr6:80564955-80565029	K562	blood:	n/a	n/a
29	NR2F2	chr6:80568433-80568920	MCF-7	breast:	n/a	chr6:80568459-80568474
30	POLR2A	chr6:80563885-80564060	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr6:80567017-80567425	H1-neurons	neurons:	n/a	n/a
32	POLR2A	chr6:80558170-80558369	GM12878	blood:	n/a	n/a
33	POLR2A	chr6:80556981-80557473	SK-N-MC	brain:	n/a	n/a
34	STAT3	chr6:80562727-80562778	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:80569598..80572189-chr6:80581732..80584452,2	MCF-7	breast:
2	chr6:80501198..80501702-chr6:80568369..80569121,2	MCF-7	breast:
3	chr6:80564754..80565348-chr6:80577673..80578339,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TTK-5	chr6:80564401-80565349	NONHSAT113714
2	lnc-ELOVL4-2	chr6:80570019-80570334	NONHSAT113715

No data

Variant related genes	Relation type
ENSG00000220918	TF binding region

Extended variants
information (count: 488 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566361602	chr6:80558800-80558801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186601165	chr6:80558822-80558823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558415046	chr6:80558838-80558839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191346387	chr6:80558860-80558861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs180887092	chr6:80558913-80558914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575233794	chr6:80558964-80558965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186077586	chr6:80558971-80558972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540797673	chr6:80558976-80558977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142158538	chr6:80559004-80559005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532783497	chr6:80559020-80559021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190837660	chr6:80559062-80559063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562885209	chr6:80559064-80559065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115575174	chr6:80559097-80559098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183341169	chr6:80559136-80559137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187204809	chr6:80559156-80559157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368516568	chr6:80559222-80559223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201882016	chr6:80559286-80559287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs346278	chr6:80559310-80559311	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs566325611	chr6:80559329-80559330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538485483	chr6:80559331-80559332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1960739	chr6:80559348-80559349	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs9341798	chr6:80559401-80559402	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs190530597	chr6:80559409-80559410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9343943	chr6:80559420-80559421	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs60369726	chr6:80559429-80559430	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs540908101	chr6:80559490-80559491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs346279	chr6:80559532-80559533	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs36062295	chr6:80559544-80559545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147831502	chr6:80559546-80559547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546093280	chr6:80559579-80559580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35785792	chr6:80559622-80559623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9343944	chr6:80559623-80559624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531725885	chr6:80559638-80559639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540650404	chr6:80559675-80559676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145104367	chr6:80559793-80559794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558768121	chr6:80559810-80559811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372466627	chr6:80559819-80559820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11752625	chr6:80559822-80559823	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs561722956	chr6:80559837-80559838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527726325	chr6:80559865-80559866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9443721	chr6:80559876-80559877	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs346280	chr6:80559928-80559929	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs532287091	chr6:80559970-80559971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552109870	chr6:80559982-80559983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374414032	chr6:80559990-80559991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568899573	chr6:80559992-80559993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76678261	chr6:80560065-80560066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145274769	chr6:80560067-80560068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529929059	chr6:80560095-80560096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77395498	chr6:80560150-80560151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Ductal carcinoma	22052326	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80558800-80570600	Weak transcription	Fetal Heart	heart
2	chr6:80564600-80564800	Enhancers	Esophagus	oesophagus
3	chr6:80564800-80573800	Weak transcription	Esophagus	oesophagus
4	chr6:80568800-80569000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:80570200-80571000	Enhancers	K562	blood
6	chr6:80570400-80571400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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