Variant report

Variant	esv2482249
Chromosome Location	chr6:75314032-75315415
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	chr6:75315280..75317355-chr6:75323555..75325158,2	MCF-7	breast:
2	chr6:75312619..75316343-chr6:75677557..75681482,3	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572636508	chr6:75314033-75314034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs77506431	chr6:75314069-75314070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1317335	chr6:75314208-75314209	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs74445686	chr6:75314235-75314236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543024033	chr6:75314255-75314256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542499537	chr6:75314319-75314320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182565431	chr6:75314370-75314371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188479540	chr6:75314378-75314379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541086630	chr6:75314384-75314385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144129238	chr6:75314415-75314416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs201253042	chr6:75314491-75314492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs533178279	chr6:75314523-75314524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551280190	chr6:75314555-75314556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs9360829	chr6:75314613-75314614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs370623421	chr6:75314697-75314698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569971642	chr6:75314724-75314725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530782040	chr6:75314735-75314736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550222371	chr6:75314758-75314759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568431766	chr6:75314794-75314795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs535836262	chr6:75314848-75314849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs140875501	chr6:75315028-75315029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs142409890	chr6:75315076-75315077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs117766058	chr6:75315097-75315098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558030236	chr6:75315114-75315115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs576333224	chr6:75315194-75315195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs868944	chr6:75315234-75315235	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs112603538	chr6:75315279-75315280	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs183822647	chr6:75315332-75315333	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs73455967	chr6:75315334-75315335	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs76571326	chr6:75315386-75315387	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs150955401	chr6:75315387-75315388	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs34136129	chr6:75315399-75315400	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs545196904	chr6:75315408-75315409	Weak transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
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
Chronic lymphocytic leukemia	21546498	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
Myelodysplastic syndrome	18508791	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:75307000-75316800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr6:75307000-75319000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:75310800-75314400	Weak transcription	Stomach Mucosa	stomach
4	chr6:75311200-75316000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr6:75312800-75314400	Enhancers	A549	lung
6	chr6:75312800-75314800	Enhancers	NHDF-Ad	bronchial
7	chr6:75313000-75314600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:75313000-75315600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr6:75313000-75316200	Enhancers	Osteobl	bone
10	chr6:75313000-75317400	Enhancers	HSMMtube	muscle
11	chr6:75313200-75315200	Enhancers	HSMM	muscle
12	chr6:75313200-75316400	Enhancers	Hela-S3	cervix
13	chr6:75313400-75314200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr6:75313400-75315600	Weak transcription	NH-A	brain
15	chr6:75313400-75316000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr6:75313600-75315200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:75313600-75316000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:75314000-75314600	Enhancers	Fetal Lung	lung
19	chr6:75314000-75315400	Weak transcription	NHLF	lung
20	chr6:75314200-75315400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:75314400-75314600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr6:75314400-75314600	Enhancers	Stomach Mucosa	stomach
23	chr6:75314400-75314800	Weak transcription	A549	lung
24	chr6:75314600-75315000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:75314800-75315200	Weak transcription	NHDF-Ad	bronchial
26	chr6:75314800-75315800	Enhancers	A549	lung
27	chr6:75314800-75316000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr6:75315000-75316200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:75315000-75316200	Enhancers	HMEC	breast
30	chr6:75315200-75315600	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr6:75315200-75315800	Genic enhancers	HSMM	muscle
32	chr6:75315200-75316200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr6:75315200-75316200	Enhancers	NHDF-Ad	bronchial
34	chr6:75315200-75317200	Enhancers	NHEK	skin
35	chr6:75315200-75318000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr6:75315400-75316400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr6:75315400-75318000	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr6:75315400-75318400	Enhancers	NHLF	lung

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