Variant report

Variant	esv3507182
Chromosome Location	chr6:149498841-149499344
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	chr6:149499280-149499430	NB4	blood:	n/a	n/a
2	FOXA2	chr6:149497498-149498960	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000263481	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561147556	chr6:149498848-149498849	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs545850399	chr6:149498886-149498887	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs375115174	chr6:149498935-149498936	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs574750453	chr6:149499029-149499030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111892980	chr6:149499081-149499082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563873245	chr6:149499099-149499100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191343260	chr6:149499129-149499130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551921785	chr6:149499134-149499135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559367472	chr6:149499179-149499180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs6920082	chr6:149499206-149499207	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs375138558	chr6:149499240-149499241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184782841	chr6:149499241-149499242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537286675	chr6:149499296-149499297	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs140538295	chr6:149499298-149499299	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs111924647	chr6:149499308-149499309	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs6920401	chr6:149499312-149499313	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs373397832	chr6:149499315-149499316	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Autism	22495311	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
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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Cancer	17160897	CNVD
Breast cancer	17417639	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149492200-149503600	Weak transcription	Right Atrium	heart

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