Variant report

Variant	rs11705048
Chromosome Location	chr22:30485853-30485854
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr22:30485540-30486072	A549	lung:	n/a	chr22:30485787-30485798
2	CEBPB	chr22:30485012-30485952	A549	lung:	n/a	chr22:30485787-30485798
3	CEBPB	chr22:30485084-30485948	IMR90	lung:	n/a	chr22:30485787-30485798
4	CEBPB	chr22:30485710-30485960	ECC-1	luminal epithelium:	n/a	chr22:30485787-30485798
5	CEBPB	chr22:30484979-30485918	K562	blood:	n/a	chr22:30485787-30485798
6	CEBPB	chr22:30484881-30485953	Hela-S3	cervix:	n/a	chr22:30485787-30485798
7	CEBPB	chr22:30485645-30485925	HepG2	liver:	n/a	chr22:30485787-30485798

Variant related genes	Relation type
HORMAD2	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10222281	0.84[AMR][1000 genomes]
rs10483158	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11090591	0.84[AMR][1000 genomes]
rs11090592	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs11090597	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11090600	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11090601	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11704206	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11704885	0.84[AMR][1000 genomes]
rs11705207	0.84[AMR][1000 genomes]
rs11705418	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12165769	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs12166998	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12169403	1.00[CEU][hapmap]
rs12169823	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes]
rs12330007	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12627944	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17644886	0.80[AMR][1000 genomes]
rs17647135	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34647160	0.84[AMR][1000 genomes]
rs3788425	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs5997567	0.96[ASN][1000 genomes]
rs737905	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes]
rs737906	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs737907	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs739615	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs916782	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9614123	1.00[JPT][hapmap]
rs9620935	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs9620936	0.87[AMR][1000 genomes]
rs9620944	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9620948	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9620955	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9625894	0.84[AMR][1000 genomes]
rs9625895	0.84[AMR][1000 genomes]
rs9625896	0.84[AMR][1000 genomes]
rs9625899	0.87[AMR][1000 genomes]
rs9625910	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9625914	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9625922	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9625924	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9625930	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30483800-30493000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr22:30484400-30486600	Enhancers	Dnd41	blood
3	chr22:30485000-30486000	Enhancers	Liver	Liver
4	chr22:30485400-30486200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr22:30485600-30486600	Enhancers	A549	lung
6	chr22:30485800-30486000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr22:30485800-30486000	Enhancers	Osteobl	bone
8	chr22:30485800-30486200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr22:30485800-30486200	Enhancers	Hela-S3	cervix

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