Variant report

Variant	esv3384860
Chromosome Location	chr6:75209732-75212930
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	chr6:75211091..75212961-chr6:75213231..75215124,2	K562	blood:

Extended variants
information (count: 91 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548833701	chr6:75211212-75211213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371052771	chr6:75211213-75211214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567046590	chr6:75211278-75211279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534516360	chr6:75211280-75211281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559257733	chr6:75211293-75211294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576913866	chr6:75211328-75211329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537493619	chr6:75211333-75211334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556118152	chr6:75211336-75211337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574484100	chr6:75211349-75211350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182694927	chr6:75211364-75211365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs114785784	chr6:75211367-75211368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571875601	chr6:75211374-75211375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545701167	chr6:75211413-75211414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563993993	chr6:75211423-75211424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs6904232	chr6:75211426-75211427	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs187028969	chr6:75211455-75211456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562409220	chr6:75211503-75211504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141034456	chr6:75211506-75211507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112190467	chr6:75211533-75211534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6904268	chr6:75211546-75211547	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs567083462	chr6:75211558-75211559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534345721	chr6:75211564-75211565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552905356	chr6:75211566-75211567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571100634	chr6:75211567-75211568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182731792	chr6:75211663-75211664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6904330	chr6:75211688-75211689	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs111716749	chr6:75211702-75211703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142379138	chr6:75211704-75211705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527556128	chr6:75211711-75211712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553411414	chr6:75211719-75211720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113396676	chr6:75211720-75211721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552164954	chr6:75211740-75211741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545639613	chr6:75211747-75211748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571648487	chr6:75211758-75211759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563930232	chr6:75211761-75211762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs151312494	chr6:75211766-75211767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543679410	chr6:75211773-75211774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140773328	chr6:75211781-75211782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150123500	chr6:75211795-75211796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548707780	chr6:75211830-75211831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531426474	chr6:75211843-75211844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560522447	chr6:75211935-75211936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73757833	chr6:75211976-75211977	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs552842008	chr6:75211993-75211994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6909286	chr6:75211997-75211998	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs531935232	chr6:75212000-75212001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201360866	chr6:75212005-75212006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550416846	chr6:75212077-75212078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6909742	chr6:75212079-75212080	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs535038276	chr6:75212082-75212083	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
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
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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:75211200-75213800	Weak transcription	Pancreas	Pancrea

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