Variant report

Variant	esv3451296
Chromosome Location	chr6:121673933-121674300
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	CEBPB	chr6:121673935-121674556	Hela-S3	cervix:	n/a	chr6:121674510-121674523
2	EP300	chr6:121674170-121674417	Hela-S3	cervix:	n/a	chr6:121674311-121674321
3	MAFK	chr6:121673796-121673944	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr6:121674201-121674312	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
RNU6-1286P	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542072852	chr6:121673960-121673961	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs137989488	chr6:121673974-121673975	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs575278526	chr6:121674007-121674008	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs530533143	chr6:121674012-121674013	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs374626931	chr6:121674024-121674025	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs539125098	chr6:121674040-121674041	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs192938356	chr6:121674050-121674051	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs371733371	chr6:121674051-121674052	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs372354797	chr6:121674054-121674055	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs200025290	chr6:121674153-121674154	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs200811605	chr6:121674155-121674156	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs113694150	chr6:121674156-121674157	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs370444299	chr6:121674157-121674158	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs57223095	chr6:121674158-121674159	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs201720061	chr6:121674159-121674160	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs200527813	chr6:121674161-121674162	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs201592363	chr6:121674163-121674164	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs570353591	chr6:121674203-121674204	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs10579973	chr6:121674210-121674211	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs532902877	chr6:121674251-121674252	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:115)

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
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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	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
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	19242612	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
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	18698023	CNVD
Mental retardation	18854857	CNVD
Leukemia	18688285	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Liver carcinoma	19366792	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Ependymoma	18628472	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21611746	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121673200-121674000	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr6:121673600-121674000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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