Variant report

Variant	esv3368757
Chromosome Location	chr6:74780479-74780949
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 92 )

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	rs573249538	chr6:74780485-74780486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs114162691	chr6:74780511-74780512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542815059	chr6:74780545-74780546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7765760	chr6:74780559-74780560	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs541920542	chr6:74780571-74780572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544756734	chr6:74780587-74780588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs9341446	chr6:74780589-74780590	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs530185876	chr6:74780644-74780645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548646590	chr6:74780718-74780719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572195804	chr6:74780753-74780754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs76308515	chr6:74780805-74780806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183696978	chr6:74780806-74780807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs397767857	chr6:74780815-74780816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs66472340	chr6:74780844-74780845	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs546921691	chr6:74780863-74780864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550250292	chr6:74780912-74780913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs139819784	chr6:74780913-74780914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs6912531	chr6:74780929-74780930	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:92)

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
Endometrioid adenocarcinoma	16974079	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
Chronic lymphocytic leukemia	21546498	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	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
Malignant fibrous histiocytomas	21085701	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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	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

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74776400-74783000	Weak transcription	NH-A	brain
2	chr6:74776600-74782800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:74777200-74783000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:74778600-74780600	Enhancers	NHLF	lung
5	chr6:74778600-74781200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:74778600-74781400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr6:74778600-74781400	Enhancers	NHDF-Ad	bronchial
8	chr6:74778800-74783000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:74779000-74781600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:74779000-74782800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:74779800-74781200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:74780000-74780600	Enhancers	Fetal Muscle Leg	muscle
13	chr6:74780000-74782800	Weak transcription	HMEC	breast
14	chr6:74780400-74782800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr6:74780400-74782800	Weak transcription	Osteobl	bone
16	chr6:74780400-74783200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr6:74780600-74782800	Weak transcription	Fetal Muscle Leg	muscle
18	chr6:74780600-74782800	Weak transcription	NHLF	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links