Variant report

Variant	esv3357874
Chromosome Location	chr10:1484052-1489050
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	chr10:1482761..1485630-chr17:57914430..57916527,2	MCF-7	breast:
2	chr10:1487270..1489622-chr10:1493711..1495334,2	K562	blood:

Variant related genes	Relation type
ENSG00000062716	chromatin interactions

Extended variants
information (count: 68 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556769516	chr10:1484129-1484130	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs530834339	chr10:1484170-1484171	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs79026649	chr10:1484193-1484194	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs568262485	chr10:1484198-1484199	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs141996734	chr10:1484295-1484296	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs564179225	chr10:1484319-1484320	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs533781021	chr10:1484325-1484326	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs114033685	chr10:1484379-1484380	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs374426555	chr10:1484393-1484394	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs146917616	chr10:1484443-1484444	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs188199511	chr10:1484467-1484468	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs138610264	chr10:1484477-1484478	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs74120615	chr10:1484530-1484531	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs553989267	chr10:1484555-1484556	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs547348370	chr10:1484581-1484582	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs368350552	chr10:1484665-1484666	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs577060884	chr10:1484711-1484712	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs3898609	chr10:1484722-1484723	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs539593268	chr10:1484725-1484726	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs556230108	chr10:1484741-1484742	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs3898610	chr10:1484759-1484760	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs535644644	chr10:1484775-1484776	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs192619287	chr10:1484776-1484777	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs575901358	chr10:1484782-1484783	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs185646736	chr10:1484789-1484790	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs558315451	chr10:1484790-1484791	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs375378984	chr10:1484829-1484830	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs577019531	chr10:1484834-1484835	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs557832438	chr10:1484949-1484950	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs577701145	chr10:1484955-1484956	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs544910146	chr10:1484961-1484962	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs75834807	chr10:1485054-1485055	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs563212087	chr10:1485110-1485111	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs142698941	chr10:1485125-1485126	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs542425629	chr10:1485135-1485136	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs545570819	chr10:1485137-1485138	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs559609525	chr10:1485166-1485167	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs528324533	chr10:1485246-1485247	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs530400813	chr10:1485263-1485264	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs140440943	chr10:1485278-1485279	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs373409789	chr10:1485279-1485280	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs540452355	chr10:1485304-1485305	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs58567552	chr10:1485338-1485339	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs368168808	chr10:1485375-1485376	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs116549489	chr10:1485404-1485405	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs10751800	chr10:1485413-1485414	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs536056202	chr10:1485442-1485443	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs367705722	chr10:1485458-1485459	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs532481705	chr10:1485492-1485493	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs566259388	chr10:1485519-1485520	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
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
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Autism	22543975	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1478000-1484200	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr10:1482800-1484800	Enhancers	Dnd41	blood
3	chr10:1484200-1484600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr10:1488800-1489000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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