Variant report

Variant	esv3418454
Chromosome Location	chr6:69515850-69516330
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	chr6:69513585..69517599-chr6:69517600..69520512,4	K562	blood:
2	chr6:69516061..69518089-chr6:70040944..70043117,2	K562	blood:

Variant related genes	Relation type
ENSG00000135298	chromatin interactions

Extended variants
information (count: 13 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545855875	chr6:69515855-69515856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569027031	chr6:69515866-69515867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544655239	chr6:69515884-69515885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537901350	chr6:69515896-69515897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558228894	chr6:69515921-69515922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146074995	chr6:69516049-69516050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370026792	chr6:69516088-69516089	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs185400802	chr6:69516094-69516095	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs73745878	chr6:69516101-69516102	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs554193811	chr6:69516188-69516189	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs373541955	chr6:69516194-69516195	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs117347167	chr6:69516218-69516219	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs563029407	chr6:69516275-69516276	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:69505600-69522800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr6:69505600-69536000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr6:69510000-69525000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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