Variant report

Variant	nsv516548
Chromosome Location	chr8:52493581-52516170
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 449 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:449 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554108932	chr8:52496835-52496836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs117322585	chr8:52496850-52496851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs35552488	chr8:52496888-52496889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546240758	chr8:52497025-52497026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564576474	chr8:52497039-52497040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568148717	chr8:52497133-52497134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs35450297	chr8:52497146-52497147	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs543684484	chr8:52497162-52497163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs6473628	chr8:52497178-52497179	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs75782599	chr8:52497185-52497186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547388697	chr8:52497200-52497201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565626552	chr8:52497202-52497203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562652363	chr8:52497210-52497211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532791805	chr8:52497266-52497267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184970068	chr8:52497278-52497279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569452489	chr8:52497299-52497300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545494404	chr8:52497312-52497313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371703818	chr8:52497317-52497318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148768622	chr8:52497318-52497319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73572306	chr8:52497419-52497420	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs570643978	chr8:52497426-52497427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536113359	chr8:52497427-52497428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78172881	chr8:52497434-52497435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539295355	chr8:52497451-52497452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535437331	chr8:52497456-52497457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572361871	chr8:52497476-52497477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374858368	chr8:52497482-52497483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs367866282	chr8:52497483-52497484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188517359	chr8:52497550-52497551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550623076	chr8:52497603-52497604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115859931	chr8:52497623-52497624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561829121	chr8:52497644-52497645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs78528389	chr8:52497674-52497675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541271011	chr8:52497707-52497708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559435470	chr8:52497712-52497713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35923500	chr8:52497716-52497717	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs10282811	chr8:52497725-52497726	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs375069501	chr8:52497735-52497736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569391028	chr8:52497755-52497756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10107128	chr8:52497762-52497763	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs548685480	chr8:52497794-52497795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568274381	chr8:52497828-52497829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535677173	chr8:52497863-52497864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181610400	chr8:52497893-52497894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs79076444	chr8:52497915-52497916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186279767	chr8:52497926-52497927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558154056	chr8:52497990-52497991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372554869	chr8:52498012-52498013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576518368	chr8:52498047-52498048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142484073	chr8:52498082-52498083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
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
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
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52496800-52497200	Enhancers	Skeletal Muscle Female	skeletal muscle
2	chr8:52496800-52502800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:52498000-52498600	Enhancers	Esophagus	oesophagus
4	chr8:52498400-52498800	Enhancers	Left Ventricle	heart
5	chr8:52498800-52499200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:52498800-52506200	Weak transcription	Left Ventricle	heart
7	chr8:52499200-52502400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:52500400-52501400	Enhancers	Brain Germinal Matrix	brain
9	chr8:52502400-52502800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:52502400-52502800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:52502400-52502800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:52502400-52503400	Enhancers	NH-A	brain
13	chr8:52502600-52503000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:52502600-52503000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:52502600-52503000	Enhancers	Right Ventricle	heart
16	chr8:52506200-52506400	Enhancers	Left Ventricle	heart
17	chr8:52506400-52506800	Enhancers	Fetal Kidney	kidney
18	chr8:52511200-52511600	Active TSS	Primary T killer memory cells from peripheral blood	blood
19	chr8:52514200-52514800	Active TSS	Aorta	Aorta
20	chr8:52514800-52518600	Weak transcription	Aorta	Aorta

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