Variant report

Variant	nsv947579
Chromosome Location	chr10:4558921-4568165
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:4566048..4568244-chr10:4578718..4581032,2	MCF-7	breast:
2	chr10:3827049..3829866-chr10:4557123..4559023,2	MCF-7	breast:
3	chr10:4553609..4555147-chr10:4560263..4562993,2	K562	blood:

Variant related genes	Relation type
ENSG00000067082	chromatin interactions

Extended variants
information (count: 398 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:398 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563646454	chr10:4559041-4559042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531277959	chr10:4559091-4559092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200917943	chr10:4559136-4559137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530974570	chr10:4559169-4559170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138794525	chr10:4559173-4559174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs61831305	chr10:4559178-4559179	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs192214148	chr10:4559191-4559192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547215372	chr10:4559203-4559204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565664819	chr10:4559267-4559268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35848707	chr10:4559306-4559307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184320314	chr10:4559309-4559310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535875819	chr10:4559329-4559330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532350106	chr10:4559344-4559345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374582570	chr10:4559358-4559359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547673994	chr10:4559367-4559368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs74111812	chr10:4559399-4559400	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs61831306	chr10:4559402-4559403	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs530134955	chr10:4559426-4559427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73595203	chr10:4559429-4559430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576999696	chr10:4559436-4559437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11252575	chr10:4559468-4559469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144791668	chr10:4559490-4559491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148131405	chr10:4559546-4559547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144119233	chr10:4559556-4559557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189477989	chr10:4559557-4559558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs61831307	chr10:4559558-4559559	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs147320091	chr10:4559597-4559598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11252576	chr10:4559656-4559657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140334791	chr10:4559657-4559658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181746234	chr10:4559691-4559692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545902777	chr10:4559715-4559716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74111813	chr10:4559761-4559762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185972407	chr10:4559762-4559763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548232144	chr10:4559772-4559773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150758279	chr10:4559786-4559787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530810916	chr10:4559819-4559820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139095573	chr10:4559866-4559867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189350569	chr10:4559924-4559925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534525497	chr10:4559932-4559933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553396598	chr10:4559943-4559944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568482044	chr10:4559963-4559964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535581538	chr10:4560096-4560097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556917593	chr10:4560160-4560161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575273508	chr10:4560166-4560167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542099276	chr10:4560167-4560168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534857119	chr10:4560178-4560179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553637091	chr10:4560182-4560183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181332750	chr10:4560215-4560216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558169188	chr10:4560228-4560229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186708519	chr10:4560253-4560254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Cancer	21129771	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4555400-4561800	Weak transcription	Pancreas	Pancrea
2	chr10:4555600-4562000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr10:4556600-4568400	Weak transcription	HSMM	muscle
4	chr10:4557000-4562000	Weak transcription	NHLF	lung
5	chr10:4557200-4561600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr10:4558200-4561800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr10:4558400-4561600	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr10:4558400-4561800	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr10:4558400-4561800	Weak transcription	NHDF-Ad	bronchial
10	chr10:4561600-4563200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr10:4561600-4563200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr10:4561800-4562000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr10:4561800-4562000	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr10:4561800-4562000	Enhancers	HMEC	breast
15	chr10:4561800-4562000	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr10:4561800-4562200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr10:4561800-4562200	Enhancers	Pancreas	Pancrea
18	chr10:4561800-4562800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr10:4561800-4563200	Enhancers	NHDF-Ad	bronchial
20	chr10:4562000-4562200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr10:4562000-4562200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr10:4562000-4562600	Weak transcription	HMEC	breast
23	chr10:4562000-4562800	Enhancers	Muscle Satellite Cultured Cells	--
24	chr10:4562000-4562800	Enhancers	Hela-S3	cervix
25	chr10:4562000-4562800	Enhancers	NHEK	skin
26	chr10:4562000-4562800	Enhancers	NHLF	lung
27	chr10:4562000-4563000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr10:4562200-4562600	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr10:4562200-4563000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr10:4562200-4569600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr10:4562400-4563200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr10:4562600-4562800	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr10:4562600-4562800	Enhancers	HMEC	breast
34	chr10:4562600-4563000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr10:4562800-4563000	Weak transcription	HMEC	breast
36	chr10:4563000-4563200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr10:4563000-4563200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr10:4563200-4567400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr10:4563200-4567400	Weak transcription	NHDF-Ad	bronchial
40	chr10:4563200-4567800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr10:4563200-4568600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr10:4564600-4565400	Enhancers	GM12878-XiMat	blood
43	chr10:4565000-4565200	Enhancers	Primary B cells from peripheral blood	blood
44	chr10:4565200-4565600	Enhancers	Fetal Kidney	kidney
45	chr10:4565600-4567400	Weak transcription	Fetal Kidney	kidney
46	chr10:4567200-4567600	Enhancers	Ovary	ovary
47	chr10:4567200-4567800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr10:4567400-4567600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr10:4567400-4567600	Enhancers	Fetal Brain Female	brain
50	chr10:4567400-4568000	Enhancers	Fetal Kidney	kidney

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