Variant report

Variant	nsv970142
Chromosome Location	chr6:73764850-73769561
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 183 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:183 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150099646	chr6:73764864-73764865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs553080649	chr6:73764869-73764870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368659818	chr6:73764889-73764890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538709015	chr6:73764897-73764898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371990297	chr6:73764898-73764899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557549233	chr6:73764925-73764926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189635434	chr6:73764930-73764931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543193498	chr6:73764943-73764944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs9341397	chr6:73764944-73764945	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs573845688	chr6:73764947-73764948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138382000	chr6:73764956-73764957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs117541018	chr6:73765066-73765067	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs73535934	chr6:73765067-73765068	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs533068978	chr6:73765109-73765110	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs551461410	chr6:73765118-73765119	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs575419508	chr6:73765124-73765125	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs148812685	chr6:73765182-73765183	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs531155063	chr6:73765184-73765185	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs549580592	chr6:73765187-73765188	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs561201445	chr6:73765215-73765216	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567987373	chr6:73765224-73765225	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181166150	chr6:73765235-73765236	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546973369	chr6:73765272-73765273	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571519624	chr6:73765280-73765281	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184648326	chr6:73765380-73765381	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557062595	chr6:73765422-73765423	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541483522	chr6:73765492-73765493	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568996411	chr6:73765503-73765504	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536887266	chr6:73765505-73765506	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34075332	chr6:73765512-73765513	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368064917	chr6:73765517-73765518	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555268649	chr6:73765518-73765519	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573883112	chr6:73765597-73765598	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371530653	chr6:73765598-73765599	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540927595	chr6:73765665-73765666	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552948948	chr6:73765694-73765695	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577682901	chr6:73765812-73765813	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1935541	chr6:73765813-73765814	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs114887904	chr6:73765875-73765876	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115543284	chr6:73765902-73765903	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551650034	chr6:73765948-73765949	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189592564	chr6:73765981-73765982	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543250129	chr6:73766008-73766009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs9341398	chr6:73766036-73766037	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs550377496	chr6:73766055-73766056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111488840	chr6:73766056-73766057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528799703	chr6:73766075-73766076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35917327	chr6:73766125-73766126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1935540	chr6:73766165-73766166	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs543686221	chr6:73766179-73766180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Gastrointestinal stromal cancer	20818650	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
Breast cancer	20409316	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73743000-73772000	Weak transcription	HSMM	muscle
2	chr6:73749000-73765200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:73753600-73774800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr6:73754800-73766200	Weak transcription	Primary B cells from cord blood	blood
5	chr6:73765000-73765200	Bivalent/Poised TSS	Hela-S3	cervix
6	chr6:73765200-73766000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:73766000-73788400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr6:73766200-73766400	ZNF genes & repeats	Primary B cells from cord blood	blood
9	chr6:73766200-73766600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
10	chr6:73766400-73786000	Weak transcription	Primary B cells from cord blood	blood
11	chr6:73766600-73805400	Weak transcription	Primary hematopoietic stem cells	blood

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