Variant report

Variant	rs5753281
Chromosome Location	chr22:31105269-31105270
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31090008..31092969-chr22:31102962..31105324,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184792	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1040422	0.89[AMR][1000 genomes]
rs11913875	0.88[ASN][1000 genomes]
rs12483846	0.94[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12484930	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs136316	0.82[ASN][1000 genomes]
rs136317	0.81[ASN][1000 genomes]
rs136337	0.95[CHB][hapmap];0.90[CHD][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs136339	0.87[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs136340	0.86[ASN][1000 genomes]
rs136343	0.95[CHB][hapmap];0.90[CHD][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs136344	0.95[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs136345	0.95[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs136346	0.87[ASN][1000 genomes]
rs136351	0.88[ASN][1000 genomes]
rs136354	0.91[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs136355	0.88[ASN][1000 genomes]
rs136356	0.88[ASN][1000 genomes]
rs136380	0.87[ASN][1000 genomes]
rs136383	0.82[CHB][hapmap];0.90[CHD][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs136388	0.91[ASN][1000 genomes]
rs4820025	0.87[ASN][1000 genomes]
rs4820897	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4820899	0.89[ASN][1000 genomes]
rs55765123	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs5749156	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5749157	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs5749161	0.91[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs5753280	0.86[AMR][1000 genomes]
rs5753285	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5753287	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs5753290	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs5753292	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs5753294	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs5753295	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs5753297	0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs5753298	0.86[JPT][hapmap];0.85[MEX][hapmap]
rs5753299	0.84[ASN][1000 genomes]
rs5753300	0.88[ASN][1000 genomes]
rs58467547	0.92[AMR][1000 genomes]
rs5997737	0.91[ASN][1000 genomes]
rs5997762	0.82[ASN][1000 genomes]
rs61537428	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62235882	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62235883	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62235892	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7292017	0.88[ASN][1000 genomes]
rs8141331	0.85[AMR][1000 genomes]
rs8184976	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs909705	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs926340	0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs5753281	C22orf27	cis	parietal	SCAN
rs5753281	PES1	cis	parietal	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31092200-31111000	Weak transcription	Fetal Intestine Small	intestine
2	chr22:31101200-31108000	Weak transcription	Gastric	stomach
3	chr22:31102200-31105400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr22:31103000-31106000	Weak transcription	NH-A	brain
5	chr22:31103000-31108000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr22:31103000-31112800	Weak transcription	Brain Hippocampus Middle	brain
7	chr22:31103200-31112800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr22:31103200-31112800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr22:31103800-31105400	Weak transcription	GM12878-XiMat	blood

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