Variant report

Variant	nsv947787
Chromosome Location	chr10:27554852-27556123
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	chr10:27531009..27532582-chr10:27554298..27557001,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000107897	chromatin interactions
ENSG00000262412	chromatin interactions

Extended variants
information (count: 45 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541196589	chr10:27554875-27554876	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs574875729	chr10:27554940-27554941	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs190304117	chr10:27554946-27554947	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs77035513	chr10:27554952-27554953	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs543532444	chr10:27554954-27554955	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs788226	chr10:27554985-27554986	Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs542543613	chr10:27554986-27554987	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs569525954	chr10:27554991-27554992	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs7095530	chr10:27555029-27555030	Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs532178093	chr10:27555046-27555047	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs527903130	chr10:27555050-27555051	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs114493362	chr10:27555136-27555137	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs532589553	chr10:27555147-27555148	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs182597994	chr10:27555184-27555185	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs187154565	chr10:27555193-27555194	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs572649191	chr10:27555199-27555200	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs549862053	chr10:27555213-27555214	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs191598154	chr10:27555216-27555217	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs139297852	chr10:27555392-27555393	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs555394433	chr10:27555434-27555435	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs182771259	chr10:27555448-27555449	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs646612	chr10:27555465-27555466	Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs558023231	chr10:27555498-27555499	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs577908610	chr10:27555500-27555501	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs187839917	chr10:27555505-27555506	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs563355474	chr10:27555514-27555515	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs193109076	chr10:27555576-27555577	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs111657030	chr10:27555608-27555609	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs559064774	chr10:27555621-27555622	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs528013684	chr10:27555628-27555629	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs541318930	chr10:27555675-27555676	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs564388684	chr10:27555724-27555725	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs533343540	chr10:27555736-27555737	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs550044451	chr10:27555740-27555741	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs559652880	chr10:27555744-27555745	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs371697730	chr10:27555769-27555770	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs570116492	chr10:27555794-27555795	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs148704694	chr10:27555802-27555803	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs140384018	chr10:27555899-27555900	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs369872936	chr10:27555900-27555901	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs549376388	chr10:27555954-27555955	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs528737718	chr10:27555978-27555979	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs184707110	chr10:27556041-27556042	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs185501223	chr10:27556073-27556074	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs113722131	chr10:27556100-27556101	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance

Variant related diseases (count:46)

Disease	PMID	Source
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
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Autism	21439084	CNVD
Maculopathy	20981449	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Adrenocortical carcinoma	18281524	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21525872	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27554600-27555600	Enhancers	HepG2	liver
2	chr10:27554800-27555200	Enhancers	Liver	Liver

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