Variant report

Variant	esv3504579
Chromosome Location	chr6:76053609-76053858
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	chr6:76046416..76050325-chr6:76053759..76057191,3	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565081856	chr6:76053634-76053635	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs55862072	chr6:76053647-76053648	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs544414692	chr6:76053730-76053731	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563849027	chr6:76053810-76053811	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs58299431	chr6:76053856-76053857	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:98)

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
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
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
Acute lymphoblastic leukemia	21098271	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	CNVD
Chronic lymphocytic leukemia	21546498	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
Myelodysplastic syndrome	18508791	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	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

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:76044600-76072800	Weak transcription	A549	lung
2	chr6:76044800-76054000	Weak transcription	Right Ventricle	heart
3	chr6:76044800-76058400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr6:76044800-76059000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:76044800-76059000	Weak transcription	Aorta	Aorta
6	chr6:76044800-76059000	Weak transcription	Fetal Brain Male	brain
7	chr6:76044800-76059000	Weak transcription	Ovary	ovary
8	chr6:76045000-76053800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr6:76045000-76056800	Weak transcription	Fetal Stomach	stomach
10	chr6:76045000-76058600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr6:76045000-76058800	Weak transcription	Brain Hippocampus Middle	brain
12	chr6:76046000-76057200	Weak transcription	Fetal Heart	heart
13	chr6:76046000-76058400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:76046200-76057000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr6:76046200-76057200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr6:76046400-76054000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:76046400-76056800	Weak transcription	Colon Smooth Muscle	Colon
18	chr6:76047200-76058600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr6:76047800-76058600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr6:76047800-76059000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr6:76048200-76055400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr6:76048400-76054200	Weak transcription	Psoas Muscle	Psoas
23	chr6:76048400-76055200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr6:76052400-76054000	Weak transcription	HSMMtube	muscle
25	chr6:76052600-76054200	Weak transcription	Right Atrium	heart
26	chr6:76052600-76054600	Strong transcription	Fetal Lung	lung
27	chr6:76053000-76054000	Strong transcription	Left Ventricle	heart
28	chr6:76053000-76055200	Weak transcription	Fetal Muscle Leg	muscle
29	chr6:76053000-76059200	Weak transcription	Pancreas	Pancrea
30	chr6:76053800-76054800	Strong transcription	Stomach Smooth Muscle	stomach

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