Variant report

Variant	esv3322108
Chromosome Location	chr8:54266949-54268597
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191924507	chr8:54266971-54266972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs114419355	chr8:54266992-54266993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7011944	chr8:54267021-54267022	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs531332082	chr8:54267077-54267078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184065345	chr8:54267122-54267123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs60684856	chr8:54267222-54267223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs58836513	chr8:54267229-54267230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550393602	chr8:54267243-54267244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376335103	chr8:54267244-54267245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200513217	chr8:54267246-54267247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527580983	chr8:54267267-54267268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535909813	chr8:54267292-54267293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7012435	chr8:54267298-54267299	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs555736855	chr8:54267357-54267358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570733896	chr8:54267359-54267360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35422785	chr8:54267360-54267361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs35358140	chr8:54267363-54267364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539812033	chr8:54267373-54267374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111912732	chr8:54267387-54267388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565908876	chr8:54267390-54267391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111677890	chr8:54267415-54267416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559440088	chr8:54267427-54267428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113051450	chr8:54267495-54267496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570145228	chr8:54267517-54267518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535990695	chr8:54267518-54267519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145463386	chr8:54267525-54267526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572499077	chr8:54267550-54267551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs57049877	chr8:54267663-54267664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs58961580	chr8:54267667-54267668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145595522	chr8:54267697-54267698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555085914	chr8:54267747-54267748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369335716	chr8:54267748-54267749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577938848	chr8:54267805-54267806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192747022	chr8:54267817-54267818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562178564	chr8:54267820-54267821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531296157	chr8:54267850-54267851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs28497511	chr8:54267872-54267873	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs561826386	chr8:54267876-54267877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537948021	chr8:54267902-54267903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567022315	chr8:54267928-54267929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547588422	chr8:54267950-54267951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537479140	chr8:54267979-54267980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569800457	chr8:54267994-54267995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570733042	chr8:54268005-54268006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73588581	chr8:54268015-54268016	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs28525488	chr8:54268026-54268027	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs115722428	chr8:54268037-54268038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184296216	chr8:54268049-54268050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545643561	chr8:54268065-54268066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549165512	chr8:54268077-54268078	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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54266200-54268600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:54266800-54267000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:54267000-54269200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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