Variant report

Variant	nsv947731
Chromosome Location	chr10:6351865-6353045
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:6351716..6354358-chr10:6354404..6356505,2	MCF-7	breast:
2	chr10:6342449..6344753-chr10:6350540..6352238,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140824775	chr10:6351866-6351867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs181207780	chr10:6351911-6351912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12259375	chr10:6351922-6351923	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs17153511	chr10:6351961-6351962	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs186405316	chr10:6351981-6351982	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142661422	chr10:6352034-6352035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12415930	chr10:6352067-6352068	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs538221635	chr10:6352068-6352069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35740397	chr10:6352083-6352084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12240587	chr10:6352101-6352102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534171963	chr10:6352110-6352111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572606241	chr10:6352118-6352119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs367744394	chr10:6352172-6352173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542862553	chr10:6352182-6352183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190924926	chr10:6352194-6352195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576166066	chr10:6352203-6352204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182583849	chr10:6352230-6352231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565198609	chr10:6352247-6352248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188891837	chr10:6352258-6352259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541017611	chr10:6352263-6352264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs576508205	chr10:6352264-6352265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560443012	chr10:6352330-6352331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs527575041	chr10:6352388-6352389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549232008	chr10:6352400-6352401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs146759963	chr10:6352403-6352404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531506906	chr10:6352419-6352420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs140337961	chr10:6352433-6352434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs3834610	chr10:6352435-6352436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs571215026	chr10:6352474-6352475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538631502	chr10:6352513-6352514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs150356592	chr10:6352524-6352525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566075931	chr10:6352551-6352552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536533828	chr10:6352556-6352557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs535496859	chr10:6352569-6352570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554772788	chr10:6352589-6352590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs190849790	chr10:6352659-6352660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs2023430	chr10:6352684-6352685	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs369313073	chr10:6352736-6352737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs559011287	chr10:6352737-6352738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs556618793	chr10:6352795-6352796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183441387	chr10:6352822-6352823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187289610	chr10:6352841-6352842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs34883642	chr10:6352859-6352860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371872208	chr10:6352861-6352862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376564488	chr10:6352897-6352898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs202047004	chr10:6352966-6352967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7919234	chr10:6352975-6352976	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs572396841	chr10:6353029-6353030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	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
Gastrointestinal stromal cancer	20818650	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6342800-6353200	Weak transcription	Aorta	Aorta
2	chr10:6342800-6356600	Weak transcription	Brain Substantia Nigra	brain
3	chr10:6349400-6360200	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr10:6349400-6369800	Weak transcription	Adipose Nuclei	Adipose
5	chr10:6351200-6352400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr10:6351200-6352600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr10:6351800-6352400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr10:6351800-6352600	Enhancers	NHEK	skin
9	chr10:6351800-6353000	Enhancers	A549	lung
10	chr10:6352000-6352200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr10:6352000-6352200	Enhancers	Esophagus	oesophagus
12	chr10:6352200-6352800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr10:6352200-6355400	Weak transcription	Esophagus	oesophagus
14	chr10:6352400-6353600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr10:6352400-6353800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr10:6352600-6353800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr10:6352800-6353800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr10:6353000-6353600	Weak transcription	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links