Variant report

Variant	esv3327307
Chromosome Location	chr6:147277828-147278366
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	chr6:147272009..147274564-chr6:147278363..147282178,4	K562	blood:
2	chr6:147223899..147226748-chr6:147275966..147278820,2	K562	blood:

Variant related genes	Relation type
ENSG00000272397	chromatin interactions

Extended variants
information (count: 25 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571144890	chr6:147277828-147277829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533739967	chr6:147277830-147277831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs111819064	chr6:147277834-147277835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs372504853	chr6:147277884-147277885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553492003	chr6:147277967-147277968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs148201729	chr6:147277968-147277969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs6911913	chr6:147277969-147277970	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs550738311	chr6:147277991-147277992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556379062	chr6:147278009-147278010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs183083880	chr6:147278013-147278014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187030997	chr6:147278040-147278041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs12199143	chr6:147278057-147278058	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs9373517	chr6:147278058-147278059	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs191551368	chr6:147278087-147278088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs370973062	chr6:147278110-147278111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533050008	chr6:147278178-147278179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140117428	chr6:147278197-147278198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs117506752	chr6:147278200-147278201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532780806	chr6:147278205-147278206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552504833	chr6:147278214-147278215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs150262885	chr6:147278216-147278217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs34746293	chr6:147278243-147278244	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs547382875	chr6:147278255-147278256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182201719	chr6:147278275-147278276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs56899999	chr6:147278346-147278347	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:75)

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
Autism	22495311	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
Melanoma	18172304	CNVD
Cancer	21637783	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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung cancer	18438408	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147277600-147278800	Enhancers	Fetal Brain Male	brain
2	chr6:147277800-147279000	Enhancers	Pancreatic Islets	Pancreatic Islet

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