Variant report

Variant	esv3489889
Chromosome Location	chr6:101934121-101939154
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	chr6:101934940..101937511-chr6:101959747..101962607,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572426027	chr6:101934165-101934166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs549164515	chr6:101934166-101934167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs78314093	chr6:101934214-101934215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs12194713	chr6:101934215-101934216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs12110583	chr6:101934239-101934240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544073079	chr6:101934260-101934261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73504614	chr6:101934267-101934268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149381188	chr6:101934268-101934269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529596352	chr6:101934271-101934272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs201494825	chr6:101934272-101934273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs66744316	chr6:101934276-101934277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541692251	chr6:101934278-101934279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559769807	chr6:101934280-101934281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532782508	chr6:101934283-101934284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112338276	chr6:101934306-101934307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569416137	chr6:101934349-101934350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530518470	chr6:101934396-101934397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548947336	chr6:101934410-101934411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565759068	chr6:101934430-101934431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369658825	chr6:101934436-101934437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs2518235	chr6:101934446-101934447	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs553245595	chr6:101934538-101934539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs371327814	chr6:101934559-101934560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs115493029	chr6:101934605-101934606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183219968	chr6:101934647-101934648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558178575	chr6:101934699-101934700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs34730302	chr6:101934736-101934737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs138039947	chr6:101934790-101934791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186003771	chr6:101934798-101934799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs555713216	chr6:101934817-101934818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557548368	chr6:101934834-101934835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574202354	chr6:101934837-101934838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs368582889	chr6:101934848-101934849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541234147	chr6:101934865-101934866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560007231	chr6:101934874-101934875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577870841	chr6:101934875-101934876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544651456	chr6:101934898-101934899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs531131852	chr6:101934923-101934924	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	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
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	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	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	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
Lung adenocarcinoma	21935476	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17170743	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21785460	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Obesity	21045960	CNVD
Liver carcinoma	19366792	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Urothelial carcinoma	21177765	CNVD
Autism	22543975	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:101933000-101934600	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr6:101933200-101934600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr6:101933400-101934600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr6:101933400-101934800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:101933800-101934200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr6:101933800-101934600	Enhancers	H1 Cell Line	embryonic stem cell
7	chr6:101933800-101934600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:101933800-101934600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr6:101934000-101934600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr6:101934000-101935000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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