Variant report

Variant	nsv520449
Chromosome Location	chr6:66072542-66091351
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	chr6:66078369..66080351-chr6:66082016..66084974,2	K562	blood:
2	chr6:66078369..66080351-chr6:66082016..66084974,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 82 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553874192	chr6:66076013-66076014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs573664763	chr6:66076032-66076033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs373335199	chr6:66076047-66076048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181198297	chr6:66076049-66076050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562687708	chr6:66076067-66076068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs9453280	chr6:66076077-66076078	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs76275816	chr6:66076084-66076085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs147454163	chr6:66076106-66076107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs527723117	chr6:66076140-66076141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs9445530	chr6:66076141-66076142	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs200639504	chr6:66076204-66076205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561286420	chr6:66076276-66076277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530160623	chr6:66076314-66076315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549831402	chr6:66076408-66076409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566954044	chr6:66076457-66076458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs139276727	chr6:66076462-66076463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs372674005	chr6:66076482-66076483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1502955	chr6:66076545-66076546	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs552499490	chr6:66076593-66076594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs149562992	chr6:66076601-66076602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546533179	chr6:66076608-66076609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs78395500	chr6:66076619-66076620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs553492127	chr6:66076634-66076635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112186855	chr6:66076671-66076672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536386914	chr6:66076675-66076676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185596124	chr6:66076682-66076683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569158972	chr6:66076695-66076696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576350624	chr6:66076711-66076712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs369032310	chr6:66076713-66076714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs148694520	chr6:66076714-66076715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs571105151	chr6:66076716-66076717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565048392	chr6:66076736-66076737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs78009628	chr6:66076749-66076750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs1858646	chr6:66076765-66076766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs572250696	chr6:66076785-66076786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs190351889	chr6:66076816-66076817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs183519804	chr6:66076836-66076837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs530024306	chr6:66076867-66076868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs551792086	chr6:66076871-66076872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549892714	chr6:66076902-66076903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563440748	chr6:66076907-66076908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs538777447	chr6:66076943-66076944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs188859697	chr6:66076958-66076959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs556884055	chr6:66076984-66076985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs552506923	chr6:66077023-66077024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs566217783	chr6:66077025-66077026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs35877097	chr6:66077066-66077067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs376656940	chr6:66077148-66077149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs9345609	chr6:66077188-66077189	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs552915039	chr6:66077193-66077194	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
Ovarian cancer	19835627	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
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Epilepsy	20502679	CNVD
Dyslexia	22102821	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:66076000-66077200	Enhancers	Fetal Stomach	stomach

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