Variant report

Variant	nsv528148
Chromosome Location	chr6:74468860-74493432
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:74475228..74477376-chr6:74479423..74481434,2	K562	blood:
2	chr6:74475228..74477376-chr6:74479423..74481434,2	K562	blood:
3	chr6:74482061..74484557-chr6:74512371..74514530,2	MCF-7	breast:
4	chr6:74482741..74484396-chr6:74495727..74498178,3	MCF-7	breast:
5	chr6:74468333..74470305-chr6:74471399..74473230,2	K562	blood:
6	chr6:74490266..74491964-chr6:74504543..74507393,2	K562	blood:
7	chr6:74468333..74470305-chr6:74471399..74473230,2	K562	blood:

Extended variants
information (count: 1012 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:1012 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7774119	chr6:74468860-74468861	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186658164	chr6:74468908-74468909	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551852022	chr6:74468934-74468935	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs74803699	chr6:74468935-74468936	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534440138	chr6:74468936-74468937	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112900566	chr6:74468952-74468953	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs41265529	chr6:74468992-74468993	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs373275560	chr6:74469008-74469009	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548616281	chr6:74469020-74469021	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73460308	chr6:74469029-74469030	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs111834458	chr6:74469052-74469053	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs73460310	chr6:74469054-74469055	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs73754674	chr6:74469056-74469057	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs77526486	chr6:74469076-74469077	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs376691252	chr6:74469085-74469086	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs554887536	chr6:74469093-74469094	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573036918	chr6:74469097-74469098	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577104104	chr6:74469119-74469120	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540447176	chr6:74469196-74469197	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs144649851	chr6:74469210-74469211	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148449625	chr6:74469249-74469250	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543864186	chr6:74469251-74469252	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562146045	chr6:74469289-74469290	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529740373	chr6:74469307-74469308	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs541446361	chr6:74469338-74469339	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs116069586	chr6:74469377-74469378	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192898581	chr6:74469403-74469404	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs546310647	chr6:74469416-74469417	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs185005669	chr6:74469436-74469437	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs114910402	chr6:74469441-74469442	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs531847981	chr6:74469481-74469482	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs550346497	chr6:74469486-74469487	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs138442425	chr6:74469498-74469499	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs538490514	chr6:74469514-74469515	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs188490367	chr6:74469525-74469526	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs553856990	chr6:74469529-74469530	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs151054155	chr6:74469549-74469550	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs191551203	chr6:74469550-74469551	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs79265380	chr6:74469619-74469620	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs533808568	chr6:74469624-74469625	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs117710003	chr6:74469700-74469701	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs7775539	chr6:74469732-74469733	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs372537499	chr6:74469777-74469778	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs9360707	chr6:74469799-74469800	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs112640897	chr6:74469807-74469808	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555754871	chr6:74469823-74469824	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530360618	chr6:74469825-74469826	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143540324	chr6:74469829-74469830	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112792315	chr6:74469856-74469857	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140555489	chr6:74469873-74469874	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Ependymoma	20639864	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:314 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74414800-74474600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr6:74425200-74475800	Weak transcription	Hela-S3	cervix
3	chr6:74425400-74483200	Weak transcription	A549	lung
4	chr6:74435800-74475400	Weak transcription	Primary T cells from cord blood	blood
5	chr6:74438400-74527200	Weak transcription	Esophagus	oesophagus
6	chr6:74441400-74473200	Weak transcription	HUVEC	blood vessel
7	chr6:74441400-74544400	Weak transcription	Aorta	Aorta
8	chr6:74442200-74473400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr6:74442400-74493400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr6:74443400-74484000	Weak transcription	Left Ventricle	heart
11	chr6:74444000-74498600	Weak transcription	Fetal Muscle Leg	muscle
12	chr6:74444400-74474600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:74448800-74483400	Weak transcription	NHEK	skin
14	chr6:74453600-74479400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr6:74456800-74483800	Weak transcription	NHLF	lung
16	chr6:74457200-74472400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr6:74457200-74484000	Weak transcription	Adipose Nuclei	Adipose
18	chr6:74457400-74475400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr6:74457600-74469000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:74457800-74477600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr6:74461400-74474000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr6:74461600-74469000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr6:74461600-74472800	Weak transcription	HMEC	breast
24	chr6:74461800-74472600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr6:74461800-74473600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr6:74463000-74472200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr6:74463800-74469000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr6:74463800-74473200	Weak transcription	Colon Smooth Muscle	Colon
29	chr6:74465200-74484800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr6:74467400-74486200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr6:74468000-74492200	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr6:74468400-74469600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr6:74468400-74469600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr6:74468600-74469800	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr6:74468800-74469200	Genic enhancers	NHDF-Ad	bronchial
36	chr6:74468800-74470400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr6:74469000-74469200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr6:74469000-74469200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr6:74469000-74469800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr6:74469200-74469400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr6:74469200-74469400	Weak transcription	NHDF-Ad	bronchial
42	chr6:74469200-74469600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr6:74469400-74469800	Enhancers	Fetal Lung	lung
44	chr6:74469400-74469800	Active TSS	NHDF-Ad	bronchial
45	chr6:74469400-74470000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr6:74469600-74469800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr6:74469600-74469800	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr6:74469600-74472600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr6:74469600-74473000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr6:74469800-74470800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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