Variant report

Variant	nsv1018324
Chromosome Location	chr8:57806451-57822240
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:57817895..57819564-chr8:57819745..57821489,2	MCF-7	breast:
2	chr8:57699787..57700590-chr8:57806529..57807709,4	MCF-7	breast:
3	chr8:57817895..57819564-chr8:57819745..57821489,2	MCF-7	breast:

Extended variants
information (count: 589 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:589 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549316389	chr8:57806465-57806466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs372691661	chr8:57806474-57806475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551566343	chr8:57806475-57806476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs60325275	chr8:57806481-57806482	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs182050811	chr8:57806546-57806547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186925430	chr8:57806595-57806596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191760257	chr8:57806601-57806602	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs565847685	chr8:57806614-57806615	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs146255847	chr8:57806704-57806705	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs558024687	chr8:57806723-57806724	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs577821411	chr8:57806726-57806727	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs539844577	chr8:57806807-57806808	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs371375294	chr8:57806808-57806809	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs556569496	chr8:57806817-57806818	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs181427250	chr8:57806821-57806822	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs60942161	chr8:57806830-57806831	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs185670483	chr8:57806859-57806860	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs200179898	chr8:57806940-57806941	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs139396303	chr8:57806967-57806968	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs541223886	chr8:57806976-57806977	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs564802335	chr8:57807004-57807005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550559286	chr8:57807082-57807083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200831131	chr8:57807090-57807091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189889091	chr8:57807100-57807101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549379086	chr8:57807137-57807138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144165517	chr8:57807222-57807223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs117515881	chr8:57807267-57807268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548667246	chr8:57807272-57807273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549095553	chr8:57807273-57807274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs80241064	chr8:57807286-57807287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534827543	chr8:57807295-57807296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144878557	chr8:57807299-57807300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571539804	chr8:57807303-57807304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148616120	chr8:57807314-57807315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537309086	chr8:57807351-57807352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566319292	chr8:57807482-57807483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs78814209	chr8:57807507-57807508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556622156	chr8:57807536-57807537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576502360	chr8:57807544-57807545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182107572	chr8:57807562-57807563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34495849	chr8:57807569-57807570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189138607	chr8:57807572-57807573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs142092968	chr8:57807581-57807582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534776137	chr8:57807629-57807630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs541630867	chr8:57807678-57807679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564486161	chr8:57807681-57807682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs151170338	chr8:57807704-57807705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs141277328	chr8:57807748-57807749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562992762	chr8:57807749-57807750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs558354191	chr8:57807759-57807760	Weak transcription Enhancers	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
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
Sezary syndrome	18413736	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
Bipolar disorder	19114987	CNVD
Recurrent pregnancy loss	19789632	CNVD

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:57802000-57806600	Weak transcription	NHLF	lung
2	chr8:57803000-57808000	Enhancers	Hela-S3	cervix
3	chr8:57803400-57806600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:57803600-57806600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:57803600-57806600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:57803600-57806600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:57803800-57806600	Weak transcription	HMEC	breast
8	chr8:57804200-57806600	Weak transcription	Osteobl	bone
9	chr8:57804600-57806600	Weak transcription	HSMM	muscle
10	chr8:57805400-57806600	Enhancers	Muscle Satellite Cultured Cells	--
11	chr8:57805600-57806800	Enhancers	Fetal Heart	heart
12	chr8:57806000-57807400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:57806200-57807200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:57806200-57807200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr8:57806400-57807000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr8:57806400-57807000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr8:57806400-57807000	Enhancers	NH-A	brain
18	chr8:57806400-57807600	Enhancers	NHEK	skin
19	chr8:57806600-57806800	Enhancers	HSMM	muscle
20	chr8:57806600-57807000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr8:57806600-57807000	Enhancers	NHLF	lung
22	chr8:57806600-57807200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr8:57806600-57807200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr8:57806600-57807400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr8:57806600-57807400	Enhancers	Osteobl	bone
26	chr8:57806600-57807600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:57806600-57807600	Enhancers	HMEC	breast
28	chr8:57807000-57807600	Enhancers	Muscle Satellite Cultured Cells	--
29	chr8:57807000-57809200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr8:57807200-57809800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr8:57807400-57809600	Weak transcription	Osteobl	bone
32	chr8:57807400-57811000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:57807600-57809000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr8:57807600-57811000	Weak transcription	HMEC	breast
35	chr8:57807600-57815200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr8:57808000-57811000	Weak transcription	Hela-S3	cervix
37	chr8:57809000-57810400	Enhancers	Muscle Satellite Cultured Cells	--
38	chr8:57809200-57810200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr8:57809600-57810200	Enhancers	Osteobl	bone
40	chr8:57809800-57810200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr8:57810200-57811600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr8:57810200-57815200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr8:57810200-57815200	Weak transcription	Osteobl	bone
44	chr8:57810600-57811400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr8:57810800-57811400	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr8:57810800-57811600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr8:57811000-57811200	Enhancers	Hela-S3	cervix
48	chr8:57811000-57811400	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr8:57811000-57811400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr8:57811000-57811400	Enhancers	HMEC	breast

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