Variant report

Variant	esv3326844
Chromosome Location	chr6:82705651-82706038
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:82460131..82462591-chr6:82705009..82708552,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000112773	chromatin interactions

Extended variants
information (count: 12 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142478706	chr6:82705660-82705661	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs563011061	chr6:82705683-82705684	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs146576691	chr6:82705694-82705695	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs147890392	chr6:82705697-82705698	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs559425165	chr6:82705707-82705708	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs189688409	chr6:82705765-82705766	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs116707662	chr6:82705778-82705779	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs191647120	chr6:82705802-82705803	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs35079820	chr6:82705849-82705850	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs183796185	chr6:82705898-82705899	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs73750688	chr6:82705912-82705913	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs188061633	chr6:82705996-82705997	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
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
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
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:82703600-82708000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr6:82704400-82706400	Enhancers	Muscle Satellite Cultured Cells	--
3	chr6:82704400-82707000	Enhancers	Hela-S3	cervix
4	chr6:82704400-82708200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr6:82704400-82708200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr6:82704400-82708200	Enhancers	HSMM	muscle
7	chr6:82704400-82709400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:82704600-82707200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:82705000-82705800	Enhancers	HepG2	liver
10	chr6:82705000-82706000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:82705000-82706600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:82705000-82706800	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr6:82705000-82708400	Enhancers	NHLF	lung
14	chr6:82705000-82709600	Enhancers	NH-A	brain
15	chr6:82705200-82705800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr6:82705200-82705800	Enhancers	A549	lung
17	chr6:82705200-82705800	Flanking Active TSS	NHEK	skin
18	chr6:82705200-82706000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:82705200-82706400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr6:82705200-82706400	Weak transcription	HSMMtube	muscle
21	chr6:82705200-82707000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:82705400-82705800	Flanking Active TSS	Osteobl	bone
23	chr6:82705400-82706000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:82705400-82706400	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr6:82705400-82706600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:82705400-82707800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr6:82705400-82708200	Enhancers	K562	blood
28	chr6:82705400-82710800	Enhancers	HMEC	breast
29	chr6:82705600-82706200	Flanking Active TSS	NHDF-Ad	bronchial
30	chr6:82705600-82707200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr6:82705800-82707000	Enhancers	NHEK	skin
32	chr6:82705800-82707000	Enhancers	Osteobl	bone
33	chr6:82705800-82707200	Weak transcription	A549	lung
34	chr6:82705800-82708000	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr6:82705800-82709000	Weak transcription	HepG2	liver
36	chr6:82706000-82706200	Enhancers	Placenta	Placenta
37	chr6:82706000-82706400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr6:82706000-82708000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr6:82706000-82708400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr6:82706000-82709200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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