Variant report

Variant	esv3442199
Chromosome Location	chr6:91774831-91776829
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	chr6:91776668..91779603-chr6:91785078..91787430,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545793405	chr6:91775000-91775001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559108022	chr6:91775003-91775004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533360039	chr6:91775100-91775101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190286679	chr6:91775157-91775158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs77063273	chr6:91776005-91776006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563963749	chr6:91776014-91776015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181792438	chr6:91776056-91776057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540380887	chr6:91776178-91776179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560451061	chr6:91776281-91776282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141669153	chr6:91776309-91776310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554759239	chr6:91776331-91776332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549400910	chr6:91776334-91776335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569427473	chr6:91776391-91776392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532063383	chr6:91776400-91776401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375455100	chr6:91776410-91776411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551968175	chr6:91776558-91776559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs370314871	chr6:91776575-91776576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577842122	chr6:91776615-91776616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs367776280	chr6:91776621-91776622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186576127	chr6:91776628-91776629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552788634	chr6:91776646-91776647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566600876	chr6:91776648-91776649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs535091427	chr6:91776667-91776668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs150145472	chr6:91776727-91776728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs9345085	chr6:91776776-91776777	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs138561534	chr6:91776779-91776780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs557492323	chr6:91776795-91776796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577421313	chr6:91776814-91776815	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Systemic lupus erythematosus	17503323	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
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	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
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	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
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	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
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	21364760	CNVD
Developmental delay	19490664	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adrenocortical carcinoma	18281524	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:91775000-91775200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:91776000-91776600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:91776200-91777000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:91776200-91777000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr6:91776200-91777400	Enhancers	Adipose Nuclei	Adipose

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