Variant report

Variant	esv3136
Chromosome Location	chr10:742543-742900
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	chr10:735546..737660-chr10:741311..743613,2	MCF-7	breast:
2	chr10:732975..736358-chr10:737675..743965,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151240	chromatin interactions

Extended variants
information (count: 39 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555119727	chr10:742549-742550	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs574719862	chr10:742556-742557	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs530378530	chr10:742578-742579	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs113102980	chr10:742581-742582	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs560254466	chr10:742594-742595	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs111402973	chr10:742611-742612	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs532369142	chr10:742639-742640	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs12241722	chr10:742643-742644	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs562747830	chr10:742659-742660	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs182638261	chr10:742661-742662	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs112717390	chr10:742669-742670	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs550622788	chr10:742670-742671	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs112776740	chr10:742678-742679	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs529947602	chr10:742682-742683	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs546707415	chr10:742699-742700	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs144086118	chr10:742701-742702	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs35948727	chr10:742711-742712	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs147311778	chr10:742714-742715	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs539153684	chr10:742716-742717	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs111723801	chr10:742727-742728	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs12266457	chr10:742734-742735	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs564875445	chr10:742748-742749	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs866535	chr10:742757-742758	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs568785665	chr10:742759-742760	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs12241780	chr10:742765-742766	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs186707848	chr10:742770-742771	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs12266463	chr10:742775-742776	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs565803388	chr10:742786-742787	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs534697309	chr10:742800-742801	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs816302	chr10:742809-742810	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs573636154	chr10:742813-742814	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs574684662	chr10:742814-742815	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs542552530	chr10:742822-742823	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs540473059	chr10:742826-742827	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs111531933	chr10:742845-742846	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs141500747	chr10:742859-742860	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs576884329	chr10:742873-742874	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs816303	chr10:742875-742876	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs113527621	chr10:742896-742897	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	20409316	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Breast cancer	17133270	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	21129771	CNVD
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	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
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
Glioblastoma multiforme	21525872	CNVD
Breast cancer	21858162	CNVD
Obesity	19966786	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:736400-746400	Weak transcription	Right Atrium	heart
2	chr10:737600-746000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:739000-742800	Weak transcription	HSMMtube	muscle
4	chr10:739800-746000	Weak transcription	Spleen	Spleen
5	chr10:740000-743200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr10:740000-746200	Weak transcription	Pancreas	Pancrea
7	chr10:742800-743800	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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