Variant report

Variant	esv3490111
Chromosome Location	chr8:63034248-63041446
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 244 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:244 , 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	rs147818323	chr8:63034252-63034253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566074302	chr8:63034281-63034282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141353750	chr8:63034299-63034300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549280680	chr8:63034302-63034303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs72666308	chr8:63034308-63034309	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs537681009	chr8:63034328-63034329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142543818	chr8:63034338-63034339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149021061	chr8:63034369-63034370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577359989	chr8:63034401-63034402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543920306	chr8:63034428-63034429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150959398	chr8:63034432-63034433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140655405	chr8:63034445-63034446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563489931	chr8:63034466-63034467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114411667	chr8:63034467-63034468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542918318	chr8:63034488-63034489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374146760	chr8:63034489-63034490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561603551	chr8:63034506-63034507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs72666309	chr8:63034517-63034518	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs75054363	chr8:63034520-63034521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187151820	chr8:63034574-63034575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548717655	chr8:63034578-63034579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs72666310	chr8:63034596-63034597	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs528372680	chr8:63034599-63034600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547872218	chr8:63034618-63034619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs367635764	chr8:63034653-63034654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551384801	chr8:63034694-63034695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73268915	chr8:63034704-63034705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs36207316	chr8:63034756-63034757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559460034	chr8:63034767-63034768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530119899	chr8:63034772-63034773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548847659	chr8:63034797-63034798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190033311	chr8:63034879-63034880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537645873	chr8:63034884-63034885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs75979427	chr8:63034913-63034914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571115427	chr8:63034927-63034928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371663009	chr8:63034983-63034984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10113426	chr8:63034992-63034993	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs369093170	chr8:63035005-63035006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs58882625	chr8:63035019-63035020	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs372869393	chr8:63035026-63035027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565523754	chr8:63035053-63035054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138546357	chr8:63035055-63035056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555300261	chr8:63035057-63035058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182098591	chr8:63035075-63035076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536879194	chr8:63035088-63035089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544135313	chr8:63035094-63035095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374794739	chr8:63035108-63035109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559144774	chr8:63035121-63035122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187201492	chr8:63035161-63035162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190112255	chr8:63035165-63035166	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
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
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
Salivary gland tumor	18059337	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
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	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
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
Colorectal cancer	21645411	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63032400-63034600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:63034000-63038200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr8:63034200-63036200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr8:63034600-63037400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:63037200-63039600	Enhancers	Brain Germinal Matrix	brain
6	chr8:63037400-63038000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:63038200-63038600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr8:63039200-63039400	Enhancers	Aorta	Aorta
9	chr8:63040000-63041400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:63040600-63041400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
11	chr8:63040800-63041400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr8:63040800-63041400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr8:63041000-63041400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell

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