Variant report

Variant	esv3387953
Chromosome Location	chr6:69012831-69017529
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	chr6:68591982..68594330-chr6:69016783..69018367,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546359355	chr6:69012840-69012841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs192759693	chr6:69012896-69012897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184970042	chr6:69012901-69012902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187820427	chr6:69012902-69012903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561675011	chr6:69012912-69012913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530478069	chr6:69012961-69012962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368762202	chr6:69012991-69012992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116450104	chr6:69013011-69013012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564174465	chr6:69013018-69013019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs193158169	chr6:69013042-69013043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs57164598	chr6:69013083-69013084	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs141509407	chr6:69013203-69013204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374640316	chr6:69013230-69013231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535187355	chr6:69013261-69013262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9354706	chr6:69013287-69013288	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs60630303	chr6:69013321-69013322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs60041700	chr6:69013322-69013323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376616194	chr6:69013323-69013324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200218970	chr6:69013326-69013327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs397745273	chr6:69013336-69013337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369283853	chr6:69013337-69013338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369199542	chr6:69013364-69013365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536651950	chr6:69013386-69013387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550427584	chr6:69013420-69013421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185160681	chr6:69013446-69013447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142477723	chr6:69013459-69013460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150549187	chr6:69013483-69013484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs67677171	chr6:69013506-69013507	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs9363884	chr6:69013570-69013571	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs76626121	chr6:69013601-69013602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373081632	chr6:69013606-69013607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556067589	chr6:69013631-69013632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9354707	chr6:69013654-69013655	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs117791534	chr6:69013678-69013679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139573135	chr6:69013707-69013708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149729714	chr6:69013724-69013725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540079082	chr6:69013795-69013796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145621708	chr6:69013811-69013812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189622587	chr6:69013816-69013817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139795385	chr6:69013855-69013856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573896958	chr6:69013861-69013862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9363885	chr6:69013874-69013875	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs181884537	chr6:69013897-69013898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs117557539	chr6:69013898-69013899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539947254	chr6:69013912-69013913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567258893	chr6:69013913-69013914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145331868	chr6:69013920-69013921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567091018	chr6:69013941-69013942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536023163	chr6:69013951-69013952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556130821	chr6:69013961-69013962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	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
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	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
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:69011600-69014000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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