Variant report

Variant	esv3330847
Chromosome Location	chr8:50448349-50450497
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186024700	chr8:50448369-50448370	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs535710738	chr8:50448395-50448396	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs549782040	chr8:50448421-50448422	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs562391731	chr8:50448424-50448425	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs191698727	chr8:50448428-50448429	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs557423825	chr8:50448469-50448470	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs201820454	chr8:50448525-50448526	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs4873109	chr8:50448529-50448530	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs374189725	chr8:50448637-50448638	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs377194972	chr8:50448647-50448648	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs539584420	chr8:50448722-50448723	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs146047787	chr8:50448753-50448754	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs540017699	chr8:50448785-50448786	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs527913919	chr8:50448942-50448943	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs138816816	chr8:50448959-50448960	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs183936760	chr8:50449111-50449112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537073464	chr8:50449119-50449120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs13258357	chr8:50449156-50449157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs13265776	chr8:50449158-50449159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs71235738	chr8:50449178-50449179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs11781743	chr8:50449202-50449203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs11782497	chr8:50449204-50449205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs58087139	chr8:50449232-50449233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs13258425	chr8:50449248-50449249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs13265852	chr8:50449250-50449251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs13258636	chr8:50449256-50449257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs13266075	chr8:50449258-50449259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs10679641	chr8:50449264-50449265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs534995130	chr8:50449371-50449372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs555313238	chr8:50449385-50449386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs34532858	chr8:50449396-50449397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568025343	chr8:50449435-50449436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535343272	chr8:50449450-50449451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs188838100	chr8:50449460-50449461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554033222	chr8:50449581-50449582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572188965	chr8:50449583-50449584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs115571010	chr8:50449587-50449588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs182216050	chr8:50449598-50449599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs61660606	chr8:50449623-50449624	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs191647380	chr8:50449641-50449642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561624327	chr8:50449689-50449690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529590835	chr8:50449707-50449708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs541405619	chr8:50449716-50449717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs559983131	chr8:50449723-50449724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs533394529	chr8:50449756-50449757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs376621806	chr8:50449793-50449794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs374521231	chr8:50449806-50449807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550150546	chr8:50449836-50449837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs184117299	chr8:50449844-50449845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570077990	chr8:50449920-50449921	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
Lung cancer	18438408	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
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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50447400-50448800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:50448800-50449000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:50449000-50450200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:50450200-50454200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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