Variant report

Variant	esv1843022
Chromosome Location	chr10:825336-826745
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:819060..821540-chr10:825309..827354,2	MCF-7	breast:
2	chr10:778218..778758-chr10:824666..825446,2	MCF-7	breast:
3	chr10:735583..738437-chr10:825634..828452,2	MCF-7	breast:
4	chr10:778218..778962-chr10:824579..825446,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151240	chromatin interactions

Extended variants
information (count: 98 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567041371	chr10:825340-825341	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs115042076	chr10:825374-825375	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs113845286	chr10:825383-825384	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs570471911	chr10:825384-825385	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs539406428	chr10:825425-825426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111867473	chr10:825426-825427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575351583	chr10:825459-825460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111296746	chr10:825461-825462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs56128436	chr10:825468-825469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111564973	chr10:825475-825476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs75764344	chr10:825495-825496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7086932	chr10:825496-825497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113771829	chr10:825510-825511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112422970	chr10:825531-825532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10904567	chr10:825545-825546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs77248383	chr10:825566-825567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10904568	chr10:825580-825581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11253437	chr10:825588-825589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113805320	chr10:825601-825602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12357973	chr10:825613-825614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11253438	chr10:825614-825615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10904569	chr10:825615-825616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369805127	chr10:825631-825632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12357974	chr10:825648-825649	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs12356989	chr10:825649-825650	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs61831429	chr10:825650-825651	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs554549866	chr10:825669-825670	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs575892533	chr10:825670-825671	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs140090842	chr10:825684-825685	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs191462786	chr10:825705-825706	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs559647210	chr10:825708-825709	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs573033003	chr10:825719-825720	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs545221591	chr10:825740-825741	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs145611219	chr10:825760-825761	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs530641479	chr10:825776-825777	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs544274396	chr10:825808-825809	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs181331958	chr10:825828-825829	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs541253287	chr10:825835-825836	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs185547156	chr10:825877-825878	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs567180344	chr10:825894-825895	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs532662573	chr10:825907-825908	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs113753370	chr10:825913-825914	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs373291008	chr10:825942-825943	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs113978929	chr10:825957-825958	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs189860638	chr10:825981-825982	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs537959185	chr10:826005-826006	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs147743224	chr10:826039-826040	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs182296346	chr10:826055-826056	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs188947746	chr10:826056-826057	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs192234197	chr10:826065-826066	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Aortic dissecting aneurysms	22263138	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:818400-830600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr10:822000-825400	Weak transcription	Osteobl	bone
3	chr10:822000-830400	Weak transcription	Esophagus	oesophagus
4	chr10:822800-825400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr10:824600-825400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr10:824600-825400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
7	chr10:825000-825400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr10:825000-825400	Enhancers	Stomach Smooth Muscle	stomach
9	chr10:825000-825400	Enhancers	NH-A	brain
10	chr10:825200-826800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr10:825400-830400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr10:825400-830400	Weak transcription	NH-A	brain

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