Variant report

Variant	esv16262
Chromosome Location	chr6:69230104-69242009
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:41380252..41382150-chr6:69231475..69232995,3	MCF-7	breast:
2	chr17:41382033..41383660-chr6:69231475..69232975,2	K562	blood:
3	chr17:41463798..41466662-chr6:69229976..69232995,3	K562	blood:
4	chr17:41380326..41381992-chr6:69231475..69232995,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188825	chromatin interactions
ENSG00000236383	chromatin interactions

Extended variants
information (count: 178 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:178 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115273709	chr6:69230119-69230120	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs182151842	chr6:69230124-69230125	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs540777383	chr6:69230208-69230209	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs185639024	chr6:69230210-69230211	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs11966659	chr6:69230217-69230218	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs550427997	chr6:69230235-69230236	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs563220519	chr6:69230301-69230302	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs531912140	chr6:69230305-69230306	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs367727199	chr6:69230323-69230324	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs78634882	chr6:69230330-69230331	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs188330440	chr6:69230346-69230347	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs375258461	chr6:69230365-69230366	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs533636082	chr6:69230393-69230394	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs180787569	chr6:69230403-69230404	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs9446029	chr6:69230463-69230464	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs117057056	chr6:69230480-69230481	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs556155762	chr6:69230497-69230498	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs569910847	chr6:69230504-69230505	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs538976280	chr6:69230505-69230506	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs558783609	chr6:69230515-69230516	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs572272668	chr6:69230522-69230523	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs184952556	chr6:69230526-69230527	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs9351724	chr6:69230597-69230598	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs575017898	chr6:69230625-69230626	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs573924633	chr6:69230639-69230640	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs190200636	chr6:69230640-69230641	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs150335084	chr6:69230716-69230717	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs531872551	chr6:69230761-69230762	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs201246221	chr6:69230773-69230774	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs528051146	chr6:69230774-69230775	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs542330052	chr6:69230780-69230781	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs9446030	chr6:69230786-69230787	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs527888491	chr6:69230789-69230790	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs149093997	chr6:69230809-69230810	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs368718932	chr6:69230818-69230819	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs181111061	chr6:69230878-69230879	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs529779198	chr6:69230893-69230894	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs146076849	chr6:69230896-69230897	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs569714967	chr6:69230992-69230993	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs138949327	chr6:69231007-69231008	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs79176110	chr6:69231012-69231013	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs565846336	chr6:69231054-69231055	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs572952347	chr6:69231074-69231075	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs534836588	chr6:69231110-69231111	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs554498412	chr6:69231138-69231139	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs540528548	chr6:69231148-69231149	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs9294799	chr6:69231159-69231160	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs13219660	chr6:69231199-69231200	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs9294800	chr6:69231212-69231213	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs186793895	chr6:69231241-69231242	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
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
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:69235800-69236200	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr6:69236000-69236600	Enhancers	HUES48 Cell Line	embryonic stem cell

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