Variant report

Variant	esv1851424
Chromosome Location	chr6:66039601-66052675
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	chr6:66051771..66054306-chr6:66063446..66065850,2	K562	blood:

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	EYS	hsa-miR-124-3p	chr6:66040931-66040951

Extended variants
information (count: 46 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373584729	chr6:66045001-66045002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530200433	chr6:66045026-66045027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs111746102	chr6:66045049-66045050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs200079430	chr6:66045064-66045065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs369587617	chr6:66045070-66045071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1502965	chr6:66045077-66045078	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs370023427	chr6:66045085-66045086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537886538	chr6:66045096-66045097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547387002	chr6:66045100-66045101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs145435440	chr6:66045101-66045102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs1502964	chr6:66045118-66045119	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs77096978	chr6:66045121-66045122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs368170644	chr6:66045126-66045127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553417420	chr6:66045145-66045146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190462222	chr6:66045165-66045166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs371782585	chr6:66045200-66045201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs73741294	chr6:66045215-66045216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182051647	chr6:66045264-66045265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375185440	chr6:66045291-66045292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73741295	chr6:66045314-66045315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545466240	chr6:66045323-66045324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565258389	chr6:66045332-66045333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs12663402	chr6:66045334-66045335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184855473	chr6:66045367-66045368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574914257	chr6:66045384-66045385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs577337414	chr6:66045424-66045425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs78034260	chr6:66045426-66045427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs369988120	chr6:66045433-66045434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs371690532	chr6:66045481-66045482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs542143308	chr6:66045531-66045532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs111533653	chr6:66045534-66045535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs188055511	chr6:66045541-66045542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs111904837	chr6:66045547-66045548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs372365421	chr6:66045554-66045555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs550994314	chr6:66045556-66045557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376799054	chr6:66045564-66045565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572543707	chr6:66045568-66045569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569102650	chr6:66045589-66045590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs180966896	chr6:66045597-66045598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs547091969	chr6:66045610-66045611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546328665	chr6:66045621-66045622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs567211254	chr6:66045638-66045639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs79608886	chr6:66045661-66045662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185331686	chr6:66045665-66045666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs78484557	chr6:66045716-66045717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs73443152	chr6:66045778-66045779	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Cancer	20164919	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
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:66045000-66045800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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