Variant report

Variant	esv1792207
Chromosome Location	chr8:54511857-54521590
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 248 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:248 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13249182	chr8:54511857-54511858	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs190674437	chr8:54511864-54511865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11987300	chr8:54511874-54511875	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs144184579	chr8:54511958-54511959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576072011	chr8:54511972-54511973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539878565	chr8:54511983-54511984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75056690	chr8:54512000-54512001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557432467	chr8:54512013-54512014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561939223	chr8:54512025-54512026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527446904	chr8:54512077-54512078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs13274248	chr8:54512097-54512098	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs147343139	chr8:54512128-54512129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76245575	chr8:54512139-54512140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549752937	chr8:54512157-54512158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs118163522	chr8:54512183-54512184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555398705	chr8:54512226-54512227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112400108	chr8:54512250-54512251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549163578	chr8:54512276-54512277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139477466	chr8:54512327-54512328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116993535	chr8:54512363-54512364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558535758	chr8:54512394-54512395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181971854	chr8:54512398-54512399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572271605	chr8:54512409-54512410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200163884	chr8:54512412-54512413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184570901	chr8:54512421-54512422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7464824	chr8:54512436-54512437	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs575919343	chr8:54512441-54512442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111376554	chr8:54512467-54512468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs199962949	chr8:54512490-54512491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs386725483	chr8:54512506-54512507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113721408	chr8:54512507-54512508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7465481	chr8:54512508-54512509	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs540821819	chr8:54512514-54512515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149944638	chr8:54512597-54512598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188195492	chr8:54512606-54512607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7465505	chr8:54512625-54512626	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs563706124	chr8:54512631-54512632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528405517	chr8:54512743-54512744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562976200	chr8:54512756-54512757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529232473	chr8:54512806-54512807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145098309	chr8:54512823-54512824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559589471	chr8:54512829-54512830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181381744	chr8:54512842-54512843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185666446	chr8:54512928-54512929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112929281	chr8:54512947-54512948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368249729	chr8:54512949-54512950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190820826	chr8:54512971-54512972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551248702	chr8:54513050-54513051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569641130	chr8:54513084-54513085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535093692	chr8:54513094-54513095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
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
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
low-grade B-cell lymphoma tumor	18367492	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
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Uveal melanoma	20484589	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54511400-54516000	Weak transcription	Aorta	Aorta
2	chr8:54516000-54516200	Enhancers	Aorta	Aorta
3	chr8:54520200-54520800	Enhancers	Brain Germinal Matrix	brain
4	chr8:54521200-54521800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:54521400-54521800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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