Variant report

Variant	esv3480456
Chromosome Location	chr8:49027093-49028802
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	chr8:49022447..49025274-chr8:49027665..49030451,2	K562	blood:

Extended variants
information (count: 79 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528675761	chr8:49027103-49027104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs151198268	chr8:49027135-49027136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111489454	chr8:49027181-49027182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369890257	chr8:49027198-49027199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189414864	chr8:49027205-49027206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532786600	chr8:49027206-49027207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs28394194	chr8:49027214-49027215	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs569293377	chr8:49027215-49027216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs55869365	chr8:49027239-49027240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150389009	chr8:49027245-49027246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549002500	chr8:49027259-49027260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182250054	chr8:49027370-49027371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534475754	chr8:49027373-49027374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138140299	chr8:49027388-49027389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187274488	chr8:49027397-49027398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547496762	chr8:49027398-49027399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539115621	chr8:49027400-49027401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189213050	chr8:49027416-49027417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181582320	chr8:49027423-49027424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185696344	chr8:49027424-49027425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149571261	chr8:49027443-49027444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11993259	chr8:49027445-49027446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145042580	chr8:49027447-49027448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540443421	chr8:49027463-49027464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565453967	chr8:49027474-49027475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532897601	chr8:49027478-49027479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190300282	chr8:49027483-49027484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79585502	chr8:49027490-49027491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76926408	chr8:49027491-49027492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552424402	chr8:49027495-49027496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs80223868	chr8:49027501-49027502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562988775	chr8:49027502-49027503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569002867	chr8:49027529-49027530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530375649	chr8:49027543-49027544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549266255	chr8:49027563-49027564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138851611	chr8:49027650-49027651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182506808	chr8:49027688-49027689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565931989	chr8:49027765-49027766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142053706	chr8:49027789-49027790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186098166	chr8:49027790-49027791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190956982	chr8:49027794-49027795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182461773	chr8:49027817-49027818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373849159	chr8:49027842-49027843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374356539	chr8:49027866-49027867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76049016	chr8:49027888-49027889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs74444019	chr8:49027890-49027891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536213113	chr8:49027937-49027938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75724969	chr8:49027967-49027968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148560253	chr8:49027969-49027970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189123324	chr8:49028031-49028032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
22q11 deletion syndrome	20357662	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Gastric cancer	22014070	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49021400-49035800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:49028800-49030200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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