Variant report

Variant	esv3352227
Chromosome Location	chr6:75029004-75029361
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	chr6:75026464..75029067-chr6:75031297..75033184,2	K562	blood:
2	chr6:75012871..75015540-chr6:75027590..75030064,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528252872	chr6:75029037-75029038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs553994199	chr6:75029057-75029058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375418611	chr6:75029111-75029112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540060606	chr6:75029113-75029114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565137789	chr6:75029123-75029124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532346634	chr6:75029133-75029134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs116433259	chr6:75029144-75029145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530837008	chr6:75029145-75029146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184360412	chr6:75029149-75029150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539011696	chr6:75029185-75029186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs145121066	chr6:75029204-75029205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557717848	chr6:75029221-75029222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs188718938	chr6:75029237-75029238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs16884669	chr6:75029246-75029247	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs373567365	chr6:75029291-75029292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115089084	chr6:75029321-75029322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531822553	chr6:75029325-75029326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs576083971	chr6:75029329-75029330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146856160	chr6:75029340-75029341	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	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
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	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
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:75028600-75029400	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr6:75028600-75030600	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr6:75028600-75030800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr6:75028600-75031200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr6:75029200-75030000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:75029200-75030000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:75029200-75030600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr6:75029200-75030800	Enhancers	HUES64 Cell Line	embryonic stem cell

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