Variant report

Variant	esv3330011
Chromosome Location	chr10:1410221-1410524
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	chr10:1405933..1409166-chr10:1409590..1411294,4	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566082429	chr10:1410274-1410275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs538274187	chr10:1410335-1410336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114804444	chr10:1410336-1410337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2820611	chr10:1410351-1410352	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs538023458	chr10:1410354-1410355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554512745	chr10:1410369-1410370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538426756	chr10:1410381-1410382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs77433799	chr10:1410382-1410383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540493013	chr10:1410393-1410394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs4614361	chr10:1410394-1410395	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs573246973	chr10:1410412-1410413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs377408575	chr10:1410428-1410429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370726082	chr10:1410441-1410442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545090915	chr10:1410450-1410451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs565366870	chr10:1410451-1410452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs116683747	chr10:1410482-1410483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369833082	chr10:1410483-1410484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs11250469	chr10:1410523-1410524	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1403400-1410600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr10:1404000-1410600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr10:1404800-1419600	Weak transcription	Right Atrium	heart
4	chr10:1406400-1410800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr10:1408800-1411000	Weak transcription	Fetal Intestine Small	intestine
6	chr10:1409000-1410600	Weak transcription	Esophagus	oesophagus
7	chr10:1409200-1410800	Weak transcription	Fetal Intestine Large	intestine
8	chr10:1409600-1411000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr10:1410200-1410400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr10:1410200-1411000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr10:1410200-1411000	Enhancers	Placenta Amnion	Placenta Amnion
12	chr10:1410200-1412200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr10:1410400-1410800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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