Variant report

Variant	nsv1031452
Chromosome Location	chr8:52483852-52516605
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 655 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:655 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576064073	chr8:52483856-52483857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs543121279	chr8:52483879-52483880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555452904	chr8:52484000-52484001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs79232396	chr8:52484006-52484007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs28435347	chr8:52484036-52484037	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs182522009	chr8:52484040-52484041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs137991517	chr8:52484058-52484059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562832118	chr8:52484064-52484065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187520484	chr8:52484073-52484074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370037910	chr8:52484078-52484079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564168165	chr8:52484106-52484107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531753594	chr8:52484109-52484110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs193083674	chr8:52484165-52484166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185655747	chr8:52484171-52484172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529073759	chr8:52484210-52484211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143493085	chr8:52484231-52484232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188931394	chr8:52484276-52484277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539770373	chr8:52484284-52484285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558104711	chr8:52484297-52484298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569513564	chr8:52484304-52484305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192376868	chr8:52484325-52484326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183625097	chr8:52484374-52484375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536789246	chr8:52484376-52484377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77691540	chr8:52484394-52484395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188686801	chr8:52484449-52484450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531631602	chr8:52484453-52484454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566903798	chr8:52484470-52484471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181423849	chr8:52484477-52484478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546061456	chr8:52484509-52484510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184138976	chr8:52484520-52484521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531559720	chr8:52484571-52484572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543845039	chr8:52484577-52484578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562030699	chr8:52484602-52484603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529421986	chr8:52484625-52484626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs4403396	chr8:52484641-52484642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190122695	chr8:52484668-52484669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146013463	chr8:52484687-52484688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111597074	chr8:52484698-52484699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs73588737	chr8:52484732-52484733	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs74527418	chr8:52484810-52484811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551659035	chr8:52484820-52484821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569938423	chr8:52484824-52484825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536642718	chr8:52484861-52484862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7838285	chr8:52484892-52484893	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs564704932	chr8:52484898-52484899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567235995	chr8:52484904-52484905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs71513535	chr8:52484943-52484944	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs60766183	chr8:52484984-52484985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572271919	chr8:52484998-52484999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539654714	chr8:52485021-52485022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52483400-52488400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:52496800-52497200	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr8:52496800-52502800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:52498000-52498600	Enhancers	Esophagus	oesophagus
5	chr8:52498400-52498800	Enhancers	Left Ventricle	heart
6	chr8:52498800-52499200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:52498800-52506200	Weak transcription	Left Ventricle	heart
8	chr8:52499200-52502400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:52500400-52501400	Enhancers	Brain Germinal Matrix	brain
10	chr8:52502400-52502800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:52502400-52502800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:52502400-52502800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:52502400-52503400	Enhancers	NH-A	brain
14	chr8:52502600-52503000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:52502600-52503000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:52502600-52503000	Enhancers	Right Ventricle	heart
17	chr8:52506200-52506400	Enhancers	Left Ventricle	heart
18	chr8:52506400-52506800	Enhancers	Fetal Kidney	kidney
19	chr8:52511200-52511600	Active TSS	Primary T killer memory cells from peripheral blood	blood
20	chr8:52514200-52514800	Active TSS	Aorta	Aorta
21	chr8:52514800-52518600	Weak transcription	Aorta	Aorta

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