Variant report

Variant	esv3345290
Chromosome Location	chr6:68273631-68276929
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568326728	chr6:68273640-68273641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577671133	chr6:68273643-68273644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148521432	chr6:68273688-68273689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559913590	chr6:68273715-68273716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549864790	chr6:68273718-68273719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187152441	chr6:68273729-68273730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543375431	chr6:68273739-68273740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs77273203	chr6:68273746-68273747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531996108	chr6:68273763-68273764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551692902	chr6:68273776-68273777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs16899362	chr6:68273777-68273778	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs75208995	chr6:68273800-68273801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547849796	chr6:68273805-68273806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559120499	chr6:68273833-68273834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567359470	chr6:68273834-68273835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs3033064	chr6:68273877-68273878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs397835608	chr6:68273899-68273900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536237456	chr6:68273945-68273946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566315202	chr6:68273963-68273964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555286491	chr6:68273965-68273966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7758123	chr6:68273981-68273982	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs151151543	chr6:68273990-68273991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149803787	chr6:68273991-68273992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575406550	chr6:68273993-68273994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs55654723	chr6:68274008-68274009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142818602	chr6:68274050-68274051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557684201	chr6:68274163-68274164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577738250	chr6:68274182-68274183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539981611	chr6:68274184-68274185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553814893	chr6:68274325-68274326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150605804	chr6:68274399-68274400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76020405	chr6:68274400-68274401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558352939	chr6:68274433-68274434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562428825	chr6:68274461-68274462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577018257	chr6:68274468-68274469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191489338	chr6:68274618-68274619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545658924	chr6:68274631-68274632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs139652142	chr6:68274666-68274667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs149739558	chr6:68274670-68274671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566268659	chr6:68274672-68274673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs555878237	chr6:68274704-68274705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs374545783	chr6:68274721-68274722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184180277	chr6:68274722-68274723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs147836370	chr6:68274743-68274744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs530087219	chr6:68274774-68274775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186121480	chr6:68274778-68274779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs141323958	chr6:68274821-68274822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555255226	chr6:68274864-68274865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537771477	chr6:68274872-68274873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs145194085	chr6:68274873-68274874	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Breast cancer	21364760	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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:68270400-68274600	Weak transcription	K562	blood
2	chr6:68274600-68275000	Enhancers	K562	blood

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