Variant report

Variant	nsv981067
Chromosome Location	chr6:73273080-73276402
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:73271338..73274048-chr6:73274112..73275955,2	K562	blood:
2	chr6:73270229..73272908-chr6:73274722..73276357,2	MCF-7	breast:
3	chr6:73270287..73274048-chr6:73274112..73277683,5	K562	blood:
4	chr6:73270287..73274048-chr6:73274112..73277683,5	K562	blood:
5	chr6:73271338..73274048-chr6:73274112..73275955,2	K562	blood:

Extended variants
information (count: 95 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149346718	chr6:73273108-73273109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs182947152	chr6:73273109-73273110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1147535	chr6:73273180-73273181	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs114159928	chr6:73273183-73273184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73753363	chr6:73273189-73273190	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs9360567	chr6:73273198-73273199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12528216	chr6:73273208-73273209	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs188047966	chr6:73273209-73273210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552715957	chr6:73273273-73273274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs375422089	chr6:73273300-73273301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs72948128	chr6:73273306-73273307	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs189625159	chr6:73273320-73273321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs183402555	chr6:73273403-73273404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187604526	chr6:73273408-73273409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146341037	chr6:73273411-73273412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs531164278	chr6:73273423-73273424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs139618943	chr6:73273446-73273447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549387330	chr6:73273569-73273570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs561594624	chr6:73273594-73273595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528961369	chr6:73273645-73273646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547223476	chr6:73273662-73273663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192188320	chr6:73273663-73273664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185096785	chr6:73273735-73273736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371523224	chr6:73273751-73273752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540046789	chr6:73273753-73273754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188023617	chr6:73273771-73273772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77467765	chr6:73273799-73273800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144446517	chr6:73273807-73273808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs72948131	chr6:73273809-73273810	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs573982527	chr6:73273831-73273832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573597221	chr6:73273854-73273855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373559037	chr6:73273910-73273911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535117278	chr6:73273943-73273944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553234014	chr6:73273955-73273956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192996521	chr6:73273983-73273984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545596918	chr6:73274002-73274003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564012649	chr6:73274003-73274004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575947986	chr6:73274048-73274049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543348092	chr6:73274049-73274050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561720431	chr6:73274062-73274063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146126866	chr6:73274072-73274073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs117148743	chr6:73274074-73274075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559183840	chr6:73274088-73274089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533534695	chr6:73274109-73274110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148758341	chr6:73274161-73274162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570293867	chr6:73274206-73274207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537721517	chr6:73274218-73274219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141792112	chr6:73274225-73274226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs67940557	chr6:73274226-73274227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11273142	chr6:73274229-73274230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Developmental delay	21147756	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

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73272800-73273600	Enhancers	K562	blood
2	chr6:73273600-73274600	Weak transcription	K562	blood
3	chr6:73274000-73274800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:73274600-73275200	Enhancers	K562	blood

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