Variant report

Variant	nsv970729
Chromosome Location	chr6:75731546-75735559
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	chr6:75731657..75734465-chr6:75734745..75736708,2	K562	blood:
2	chr6:75731657..75734465-chr6:75734745..75736708,2	K562	blood:

Extended variants
information (count: 118 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143683790	chr6:75731554-75731555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs148118979	chr6:75731587-75731588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191789637	chr6:75731595-75731596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373458610	chr6:75731598-75731599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73747856	chr6:75731601-75731602	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs567397389	chr6:75731608-75731609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182841232	chr6:75731644-75731645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528436794	chr6:75731666-75731667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577971325	chr6:75731686-75731687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187437133	chr6:75731691-75731692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374986371	chr6:75731696-75731697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143798244	chr6:75731763-75731764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192396168	chr6:75731841-75731842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542846619	chr6:75731847-75731848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185577172	chr6:75731857-75731858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574082696	chr6:75731944-75731945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs147254320	chr6:75731945-75731946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189298106	chr6:75731989-75731990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192279432	chr6:75732065-75732066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs4518462	chr6:75732084-75732085	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs564059172	chr6:75732094-75732095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs80227823	chr6:75732142-75732143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139324985	chr6:75732185-75732186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12207660	chr6:75732189-75732190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143364123	chr6:75732205-75732206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6914245	chr6:75732260-75732261	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs184675904	chr6:75732261-75732262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113046907	chr6:75732295-75732296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571239662	chr6:75732334-75732335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113501871	chr6:75732380-75732381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538681588	chr6:75732386-75732387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556965856	chr6:75732406-75732407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112694954	chr6:75732450-75732451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4708170	chr6:75732488-75732489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs115245243	chr6:75732497-75732498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs116032319	chr6:75732500-75732501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150907371	chr6:75732574-75732575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79204939	chr6:75732587-75732588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531269919	chr6:75732602-75732603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs118136186	chr6:75732603-75732604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs188595024	chr6:75732721-75732722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs139334670	chr6:75732734-75732735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563790379	chr6:75732785-75732786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531242152	chr6:75732834-75732835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs62415663	chr6:75732893-75732894	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs374619183	chr6:75732958-75732959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs528722219	chr6:75732968-75732969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs9447418	chr6:75733010-75733011	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs537143945	chr6:75733053-75733054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571404745	chr6:75733115-75733116	Enhancers Weak transcription	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
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
Breast cancer	21364760	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:75730800-75734600	Weak transcription	Fetal Lung	lung
2	chr6:75731600-75733200	Weak transcription	Osteobl	bone
3	chr6:75732000-75732600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr6:75732200-75734000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr6:75732600-75733000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr6:75733000-75733200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:75733000-75733600	Enhancers	Fetal Kidney	kidney
8	chr6:75733000-75733800	Enhancers	NHDF-Ad	bronchial
9	chr6:75733000-75733800	Enhancers	NHLF	lung
10	chr6:75733000-75735600	Enhancers	HUVEC	blood vessel
11	chr6:75733200-75733600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:75733200-75733600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr6:75733200-75733800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:75733200-75733800	Enhancers	Osteobl	bone
15	chr6:75733200-75734400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:75733200-75734800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:75733400-75733800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr6:75733400-75733800	Enhancers	HMEC	breast
19	chr6:75733400-75733800	Enhancers	NHEK	skin
20	chr6:75733400-75735200	Enhancers	Muscle Satellite Cultured Cells	--
21	chr6:75733800-75734200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr6:75733800-75734800	Weak transcription	NHLF	lung
23	chr6:75733800-75734800	Weak transcription	Osteobl	bone
24	chr6:75733800-75735000	Weak transcription	NHDF-Ad	bronchial
25	chr6:75734200-75735200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr6:75734400-75736200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr6:75734600-75735000	Enhancers	Colon Smooth Muscle	Colon
28	chr6:75734600-75735200	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr6:75734600-75735200	Enhancers	Fetal Lung	lung
30	chr6:75734800-75735000	Enhancers	Osteobl	bone
31	chr6:75734800-75735600	Enhancers	NHLF	lung
32	chr6:75735000-75735400	Enhancers	Fetal Stomach	stomach
33	chr6:75735200-75735400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr6:75735200-75735400	Enhancers	NHDF-Ad	bronchial
35	chr6:75735200-75750400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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