Variant report

Variant	esv3413129
Chromosome Location	chr6:134431940-134432183
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:134431922..134432858-chr6:135203283..135204201,3	K562	blood:
2	chr6:134293960..134294724-chr6:134431907..134432817,2	K562	blood:
3	chr6:134431938..134432543-chr6:134444825..134445504,2	K562	blood:
4	chr6:134426259..134427871-chr6:134429306..134432091,2	MCF-7	breast:
5	chr6:134431893..134432854-chr6:135203300..135204212,6	MCF-7	breast:
6	chr6:134432141..134433091-chr6:134444541..134445728,4	MCF-7	breast:
7	chr6:134431601..134432844-chr6:134444411..134445427,6	MCF-7	breast:
8	chr6:134430905..134433132-chr6:134494034..134496978,2	MCF-7	breast:
9	chr6:134242132..134242777-chr6:134431893..134432433,3	K562	blood:
10	chr6:134431948..134432838-chr6:135262089..135262667,2	K562	blood:
11	chr6:134431906..134432909-chr6:135261784..135262481,3	MCF-7	breast:
12	chr6:134431879..134432935-chr6:135143772..135144812,8	K562	blood:
13	chr6:134244863..134245803-chr6:134431933..134432844,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000118515	chromatin interactions
ENSG00000240056	chromatin interactions

Extended variants
information (count: 13 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141712972	chr6:134431975-134431976	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs557251535	chr6:134431979-134431980	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs183617038	chr6:134431984-134431985	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs7760026	chr6:134432000-134432001	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs553213036	chr6:134432027-134432028	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs573206366	chr6:134432030-134432031	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs544976033	chr6:134432046-134432047	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs550476661	chr6:134432088-134432089	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs187535249	chr6:134432127-134432128	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs557793214	chr6:134432128-134432129	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs544736400	chr6:134432134-134432135	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs563326545	chr6:134432163-134432164	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs529042927	chr6:134432183-134432184	Weak transcription	Chromatin interactive region	2 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
Colorectal cancer	16272173	CNVD
Gastric cancer	17908304	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	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
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21785460	CNVD
Kartagener syndrome	16639409	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Cancer	20164919	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:134416200-134438600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:134430200-134432000	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr6:134430400-134432000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr6:134430400-134432000	Enhancers	Hela-S3	cervix
5	chr6:134431400-134433600	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr6:134431400-134438000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:134431400-134438600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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