Variant report

Variant	esv2635754
Chromosome Location	chr8:59122378-59123724
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534218297	chr8:59122386-59122387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569605221	chr8:59122422-59122423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554185264	chr8:59122443-59122444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535407273	chr8:59122459-59122460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12682314	chr8:59122474-59122475	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs10957038	chr8:59122513-59122514	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs556327141	chr8:59122521-59122522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568690155	chr8:59122533-59122534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576130259	chr8:59122554-59122555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143603366	chr8:59122600-59122601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561684220	chr8:59122603-59122604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113082931	chr8:59122626-59122627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140746713	chr8:59122645-59122646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537695689	chr8:59122675-59122676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540674367	chr8:59122684-59122685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189252394	chr8:59122687-59122688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191010862	chr8:59122689-59122690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73247432	chr8:59122691-59122692	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs549561616	chr8:59122693-59122694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563116435	chr8:59122733-59122734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183254633	chr8:59122758-59122759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548782441	chr8:59122772-59122773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs150110598	chr8:59122796-59122797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187584014	chr8:59122814-59122815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547781001	chr8:59122902-59122903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554209333	chr8:59122913-59122914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570710576	chr8:59122948-59122949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539944155	chr8:59123076-59123077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192005759	chr8:59123138-59123139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577268215	chr8:59123155-59123156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570122638	chr8:59123258-59123259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535297241	chr8:59123298-59123299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2970743	chr8:59123311-59123312	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs572047426	chr8:59123316-59123317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372457913	chr8:59123373-59123374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574019939	chr8:59123399-59123400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540885186	chr8:59123419-59123420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs13251851	chr8:59123525-59123526	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs7834557	chr8:59123580-59123581	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs543518693	chr8:59123611-59123612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563272364	chr8:59123620-59123621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528974721	chr8:59123711-59123712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542487405	chr8:59123716-59123717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs35514816	chr8:59123720-59123721	Weak transcription Enhancers	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
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
Multiple myeloma	16461302	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	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
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	22183965	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59110000-59124600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:59121800-59124800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:59123600-59125400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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