Variant report

Variant	esv1795686
Chromosome Location	chr8:50906474-50921942
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	chr8:50906818..50909515-chr8:50916418..50918690,2	K562	blood:
2	chr8:50906818..50909515-chr8:50916418..50918690,2	K562	blood:

Extended variants
information (count: 418 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:418 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566391659	chr8:50911606-50911607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544084879	chr8:50911609-50911610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532953884	chr8:50911613-50911614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551406339	chr8:50911634-50911635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs6984357	chr8:50911641-50911642	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs183445898	chr8:50911662-50911663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555503696	chr8:50911692-50911693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs117084551	chr8:50911762-50911763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534849401	chr8:50911766-50911767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186711729	chr8:50911783-50911784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577911717	chr8:50911789-50911790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545749816	chr8:50911800-50911801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144147426	chr8:50911870-50911871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190664701	chr8:50911871-50911872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs200734508	chr8:50911884-50911885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs74574882	chr8:50911906-50911907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543523578	chr8:50911927-50911928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73569382	chr8:50911941-50911942	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs113014379	chr8:50911953-50911954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529443312	chr8:50911981-50911982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541656586	chr8:50911982-50911983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs183211103	chr8:50912037-50912038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533670612	chr8:50912073-50912074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116236250	chr8:50912083-50912084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs569686568	chr8:50912111-50912112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs540916300	chr8:50912161-50912162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548783967	chr8:50912193-50912194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs567403515	chr8:50912196-50912197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs187968501	chr8:50912199-50912200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553144999	chr8:50912202-50912203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs374666979	chr8:50912222-50912223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538565661	chr8:50912247-50912248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs369941553	chr8:50912271-50912272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs191278671	chr8:50912282-50912283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs114188006	chr8:50912308-50912309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs555574655	chr8:50912377-50912378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113166963	chr8:50912439-50912440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541219996	chr8:50912469-50912470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187990129	chr8:50912482-50912483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs578241727	chr8:50912489-50912490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192703953	chr8:50912497-50912498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs146901657	chr8:50912508-50912509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530518187	chr8:50912511-50912512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372230458	chr8:50912528-50912529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs556143020	chr8:50912539-50912540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs527492874	chr8:50912559-50912560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs10957737	chr8:50912615-50912616	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs137919414	chr8:50912624-50912625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs185050067	chr8:50912638-50912639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs538477633	chr8:50912712-50912713	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50911600-50913800	Enhancers	Brain Germinal Matrix	brain
2	chr8:50911800-50913600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:50911800-50914200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:50911800-50914600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr8:50912000-50914000	Enhancers	Primary hematopoietic stem cells	blood
6	chr8:50912000-50914400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:50912200-50913000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr8:50912400-50913400	Enhancers	Fetal Brain Male	brain
9	chr8:50912400-50914600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr8:50912600-50913400	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr8:50912600-50913800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr8:50912600-50914600	Enhancers	Liver	Liver
13	chr8:50913600-50935200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:50914600-50916000	Weak transcription	Liver	Liver
15	chr8:50916000-50917600	Enhancers	Liver	Liver
16	chr8:50917600-50922800	Weak transcription	Liver	Liver

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