Variant report

Variant	esv12070
Chromosome Location	chr10:1582580-1585280
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	chr10:1575954..1577793-chr10:1581018..1583790,2	K562	blood:

Extended variants
information (count: 243 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:243 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570724870	chr10:1582586-1582587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs536379074	chr10:1582590-1582591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545170895	chr10:1582679-1582680	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2944604	chr10:1582680-1582681	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs3956253	chr10:1582682-1582683	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs12242125	chr10:1582686-1582687	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570149123	chr10:1582694-1582695	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs545375024	chr10:1582698-1582699	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12243697	chr10:1582724-1582725	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376943255	chr10:1582741-1582742	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs112354005	chr10:1582743-1582744	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566378971	chr10:1582744-1582745	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12243701	chr10:1582749-1582750	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201486599	chr10:1582761-1582762	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12243709	chr10:1582766-1582767	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12243710	chr10:1582768-1582769	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs75357462	chr10:1582774-1582775	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558786502	chr10:1582784-1582785	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs371342594	chr10:1582813-1582814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77025241	chr10:1582817-1582818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs55758876	chr10:1582821-1582822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113706838	chr10:1582826-1582827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140391390	chr10:1582832-1582833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs80144459	chr10:1582838-1582839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs61831931	chr10:1582856-1582857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs61831932	chr10:1582857-1582858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557749587	chr10:1582861-1582862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138205754	chr10:1582870-1582871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74537370	chr10:1582874-1582875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs80190010	chr10:1582876-1582877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200602858	chr10:1582881-1582882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs77555026	chr10:1582901-1582902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74543053	chr10:1582905-1582906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575654514	chr10:1582911-1582912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369951179	chr10:1582912-1582913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543392374	chr10:1582914-1582915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs74339790	chr10:1582921-1582922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185181171	chr10:1582923-1582924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188667179	chr10:1582930-1582931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74762624	chr10:1582932-1582933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs80040548	chr10:1582934-1582935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141555417	chr10:1582958-1582959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191604810	chr10:1582959-1582960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369906930	chr10:1582966-1582967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183756137	chr10:1582976-1582977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188134311	chr10:1582978-1582979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375368121	chr10:1583020-1583021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs180675157	chr10:1583022-1583023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187211668	chr10:1583037-1583038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544326756	chr10:1583038-1583039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1581000-1585400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr10:1581200-1588400	Weak transcription	Dnd41	blood
3	chr10:1581800-1582600	Enhancers	GM12878-XiMat	blood
4	chr10:1582400-1582600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr10:1582400-1585400	Weak transcription	Brain Germinal Matrix	brain
6	chr10:1582600-1582800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr10:1582800-1584000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr10:1583200-1587800	Weak transcription	Spleen	Spleen
9	chr10:1584000-1584400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr10:1584400-1586400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr10:1585200-1585400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
12	chr10:1585200-1585400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr10:1585200-1585400	Enhancers	Brain Anterior Caudate	brain
14	chr10:1585200-1585400	Enhancers	Fetal Muscle Leg	muscle
15	chr10:1585200-1594800	Weak transcription	Right Atrium	heart

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