Variant report

Variant	esv3445256
Chromosome Location	chr6:68345131-68352329
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:68349476..68351287-chr6:68384246..68386682,2	K562	blood:
2	chr6:68344247..68347231-chr6:68348042..68351033,2	K562	blood:
3	chr6:68344247..68347231-chr6:68348042..68351033,2	K562	blood:

Extended variants
information (count: 90 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9454209	chr6:68345135-68345136	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536492786	chr6:68345174-68345175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs112886747	chr6:68345177-68345178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556170221	chr6:68345185-68345186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548271124	chr6:68345192-68345193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs200703488	chr6:68345219-68345220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537824137	chr6:68345227-68345228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs370984456	chr6:68345243-68345244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs9454210	chr6:68345289-68345290	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs182538152	chr6:68345330-68345331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs4710666	chr6:68345355-68345356	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs573879305	chr6:68345380-68345381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs542839601	chr6:68345382-68345383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs72894857	chr6:68345396-68345397	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs532045264	chr6:68345427-68345428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551049134	chr6:68345540-68345541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs139813795	chr6:68345555-68345556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185356239	chr6:68345586-68345587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191945287	chr6:68345607-68345608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34896384	chr6:68345627-68345628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs397809675	chr6:68345635-68345636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs547050664	chr6:68345675-68345676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567404325	chr6:68345777-68345778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs536430928	chr6:68345798-68345799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565442829	chr6:68345815-68345816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183581265	chr6:68345818-68345819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs142901924	chr6:68345822-68345823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs564548584	chr6:68345823-68345824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569817362	chr6:68345888-68345889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538936395	chr6:68345897-68345898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs149796459	chr6:68345917-68345918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577613972	chr6:68345928-68345929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374030199	chr6:68345981-68345982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs116571523	chr6:68346066-68346067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573816238	chr6:68346106-68346107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs188571004	chr6:68346132-68346133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs370264006	chr6:68346136-68346137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs193147848	chr6:68346180-68346181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs9354614	chr6:68346185-68346186	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs183336694	chr6:68346186-68346187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs527263941	chr6:68346188-68346189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs72894869	chr6:68350021-68350022	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs184723816	chr6:68350029-68350030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs9454211	chr6:68350075-68350076	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs568964031	chr6:68350091-68350092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs377593345	chr6:68350105-68350106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs12209445	chr6:68350117-68350118	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs190009519	chr6:68350141-68350142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs577962721	chr6:68350165-68350166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534073804	chr6:68350169-68350170	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:68344800-68346200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr6:68350000-68351200	Enhancers	HUVEC	blood vessel

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