Variant report

Variant	esv3420133
Chromosome Location	chr10:1463952-1468250
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	chr10:1464137..1466875-chr10:1469033..1471115,2	MCF-7	breast:
2	chr10:1462723..1464898-chr10:1498013..1500643,2	MCF-7	breast:

Extended variants
information (count: 209 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:209 , 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	rs80130987	chr10:1464008-1464009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs77232307	chr10:1464020-1464021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536712154	chr10:1464062-1464063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs35818950	chr10:1464072-1464073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553610227	chr10:1464095-1464096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573525986	chr10:1464117-1464118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539227778	chr10:1464143-1464144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs386739839	chr10:1464171-1464172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs11250506	chr10:1464173-1464174	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs543886914	chr10:1464174-1464175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs2805542	chr10:1464205-1464206	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs574457460	chr10:1464206-1464207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs141169788	chr10:1464228-1464229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553973738	chr10:1464246-1464247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540276957	chr10:1464264-1464265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148590356	chr10:1464269-1464270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs376153528	chr10:1464273-1464274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs35507891	chr10:1464276-1464277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551935275	chr10:1464315-1464316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs76111294	chr10:1464319-1464320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531602961	chr10:1464345-1464346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545917572	chr10:1464353-1464354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs111440427	chr10:1464364-1464365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs114794379	chr10:1464370-1464371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs34061094	chr10:1464387-1464388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs576121700	chr10:1464437-1464438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181570887	chr10:1464483-1464484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs377400642	chr10:1464505-1464506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs144536772	chr10:1464523-1464524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs78973609	chr10:1464552-1464553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs186338622	chr10:1464553-1464554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559166324	chr10:1464557-1464558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575863485	chr10:1464559-1464560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189922187	chr10:1464616-1464617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs561502234	chr10:1464617-1464618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs77787890	chr10:1464631-1464632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs540557892	chr10:1464642-1464643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574419587	chr10:1464648-1464649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560743340	chr10:1464714-1464715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539836361	chr10:1464742-1464743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs556429328	chr10:1464746-1464747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559847497	chr10:1464769-1464770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs146421502	chr10:1464841-1464842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs182231901	chr10:1464843-1464844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs562305784	chr10:1464851-1464852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs115715459	chr10:1464880-1464881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs2805543	chr10:1464892-1464893	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs552271712	chr10:1464897-1464898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561827896	chr10:1464919-1464920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs12772727	chr10:1464988-1464989	Weak transcription Enhancers	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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1462800-1464000	Enhancers	Gastric	stomach
2	chr10:1463200-1465800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr10:1463200-1467800	Enhancers	Primary B cells from cord blood	blood
4	chr10:1463200-1471600	Enhancers	Primary B cells from peripheral blood	blood
5	chr10:1463200-1475600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr10:1463600-1464000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
7	chr10:1463600-1464800	Enhancers	Dnd41	blood
8	chr10:1463600-1465800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr10:1463600-1468000	Weak transcription	Fetal Thymus	thymus
10	chr10:1463600-1475400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr10:1464000-1464600	Weak transcription	Gastric	stomach
12	chr10:1464600-1464800	Enhancers	Gastric	stomach
13	chr10:1464800-1466000	Weak transcription	Dnd41	blood
14	chr10:1464800-1475400	Weak transcription	Gastric	stomach
15	chr10:1465200-1469800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr10:1465600-1466200	Enhancers	Spleen	Spleen
17	chr10:1465800-1469800	Enhancers	Primary hematopoietic stem cells	blood
18	chr10:1465800-1470200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr10:1466000-1470400	Enhancers	Dnd41	blood
20	chr10:1466200-1466800	Bivalent Enhancer	GM12878-XiMat	blood
21	chr10:1466200-1468800	Weak transcription	Spleen	Spleen
22	chr10:1466800-1469200	Enhancers	GM12878-XiMat	blood
23	chr10:1467000-1469600	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr10:1467800-1468200	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr10:1468000-1468200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
26	chr10:1468000-1468600	Enhancers	Fetal Stomach	stomach
27	chr10:1468000-1469000	Enhancers	Fetal Thymus	thymus
28	chr10:1468200-1471600	Enhancers	Primary B cells from cord blood	blood

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