Variant report

Variant	esv3446156
Chromosome Location	chr6:132320428-132320827
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181676818	chr6:132320429-132320430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs112557205	chr6:132320430-132320431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376978965	chr6:132320439-132320440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560286859	chr6:132320440-132320441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140078360	chr6:132320454-132320455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532638194	chr6:132320527-132320528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs373697987	chr6:132320532-132320533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547361129	chr6:132320535-132320536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550740521	chr6:132320547-132320548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs527729209	chr6:132320573-132320574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs233943	chr6:132320646-132320647	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs375114791	chr6:132320650-132320651	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs370937115	chr6:132320712-132320713	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs2022612	chr6:132320742-132320743	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs17060944	chr6:132320765-132320766	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs566736077	chr6:132320766-132320767	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs112508448	chr6:132320822-132320823	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs533778941	chr6:132320827-132320828	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132303000-132320600	Weak transcription	Left Ventricle	heart
2	chr6:132304800-132320600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:132306200-132321400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr6:132317600-132324400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:132317800-132320600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:132318000-132320600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:132318600-132320800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr6:132318800-132320800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:132318800-132324800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:132319200-132320800	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr6:132319400-132321800	Enhancers	Fetal Heart	heart
12	chr6:132319600-132320800	Enhancers	HSMMtube	muscle
13	chr6:132319800-132320600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:132319800-132320800	Enhancers	HSMM	muscle
15	chr6:132320000-132320800	Enhancers	Fetal Stomach	stomach
16	chr6:132320000-132321200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr6:132320000-132321800	Enhancers	Primary B cells from peripheral blood	blood
18	chr6:132320000-132321800	Weak transcription	Aorta	Aorta
19	chr6:132320000-132324400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr6:132320200-132321000	Weak transcription	NHDF-Ad	bronchial
21	chr6:132320400-132320800	Enhancers	Primary B cells from cord blood	blood
22	chr6:132320400-132321400	Weak transcription	Brain Substantia Nigra	brain
23	chr6:132320600-132320800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr6:132320600-132320800	Enhancers	Left Ventricle	heart
25	chr6:132320600-132321000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr6:132320600-132321400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr6:132320600-132321400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr6:132320600-132321600	Enhancers	Rectal Smooth Muscle	rectum

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