Variant report

Variant	esv3366745
Chromosome Location	chr10:22251329-22251626
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	chr10:22251092..22253424-chr10:23344303..23346023,2	K562	blood:
2	chr10:22250502..22253425-chr10:22270615..22273488,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563834983	chr10:22251378-22251379	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs2807967	chr10:22251380-22251381	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs141045122	chr10:22251387-22251388	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs567590572	chr10:22251389-22251390	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs77638326	chr10:22251390-22251391	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs34817098	chr10:22251411-22251412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs79342282	chr10:22251412-22251413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573994429	chr10:22251502-22251503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs116224076	chr10:22251530-22251531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs35871499	chr10:22251532-22251533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188560468	chr10:22251546-22251547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527424825	chr10:22251554-22251555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532315911	chr10:22251559-22251560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs111260801	chr10:22251575-22251576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs193117438	chr10:22251584-22251585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185515448	chr10:22251591-22251592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs367685446	chr10:22251594-22251595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188157893	chr10:22251595-22251596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577876040	chr10:22251607-22251608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549681387	chr10:22251612-22251613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:42)

Disease	PMID	Source
Breast cancer	17133270	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
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	21525872	CNVD
Prostate cancer	18632612	CNVD
Cancer	17699850	CNVD
Ovarian cancer	17699850	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:22245200-22251400	Weak transcription	Psoas Muscle	Psoas
2	chr10:22249800-22261600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr10:22250400-22251600	Enhancers	HUVEC	blood vessel
4	chr10:22250800-22251600	Enhancers	Pancreas	Pancrea
5	chr10:22250800-22264400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr10:22251000-22251400	Active TSS	K562	blood
7	chr10:22251000-22253600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr10:22251200-22254600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr10:22251400-22251600	Enhancers	Psoas Muscle	Psoas
10	chr10:22251400-22252400	Enhancers	K562	blood

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