Variant report

Variant	rs4869245
Chromosome Location	chr5:94971248-94971249
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:94969812..94972807-chr5:94980208..94983859,3	K562	blood:
2	chr5:94966845..94971846-chr5:95064357..95069184,6	K562	blood:
3	chr5:94949076..94951830-chr5:94968057..94971746,3	K562	blood:
4	chr5:94966247..94968273-chr5:94969392..94971548,2	MCF-7	breast:
5	chr5:94970162..94972670-chr5:94973796..94975499,2	MCF-7	breast:
6	chr5:94967847..94971625-chr5:94973983..94977382,3	K562	blood:

Variant related genes	Relation type
ENSG00000250240	Chromatin interaction
ENSG00000164292	Chromatin interaction
ENSG00000175449	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10063774	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.85[JPT][hapmap];0.93[TSI][hapmap];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13166682	0.84[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13172592	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13179768	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs150548	0.91[CHB][hapmap];0.90[CHD][hapmap];0.82[TSI][hapmap];0.89[ASN][1000 genomes]
rs150549	0.84[CEU][hapmap];0.91[CHB][hapmap];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs150550	0.92[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.89[GIH][hapmap];0.93[TSI][hapmap];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs213507	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs213508	0.92[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.81[JPT][hapmap];0.82[MEX][hapmap];0.95[TSI][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs213509	0.90[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs213510	0.80[CEU][hapmap];0.90[CHB][hapmap];0.89[ASN][1000 genomes]
rs213511	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs213512	0.85[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.84[GIH][hapmap];0.82[MEX][hapmap];0.82[TSI][hapmap];0.89[ASN][1000 genomes]
rs213880	0.90[CEU][hapmap];0.89[CHB][hapmap];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs213885	0.85[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];0.81[JPT][hapmap];0.95[ASN][1000 genomes]
rs213887	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.81[JPT][hapmap];0.93[TSI][hapmap];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs213888	0.95[ASN][1000 genomes]
rs411817	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];0.85[JPT][hapmap];0.82[MEX][hapmap];0.82[TSI][hapmap];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs412026	0.85[CEU][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];0.81[GIH][hapmap];0.88[ASN][1000 genomes]
rs440342	0.95[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap];0.82[TSI][hapmap];0.96[ASN][1000 genomes]
rs6865873	0.84[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6887595	0.85[JPT][hapmap]
rs6890832	0.92[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];0.85[JPT][hapmap];0.91[TSI][hapmap];0.92[EUR][1000 genomes];0.96[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	nsv598955	chr5:94903453-95136019	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4869245	RHOBTB3	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94968200-94973200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr5:94968200-94979800	Weak transcription	Primary T cells from cord blood	blood
3	chr5:94968400-94975200	Weak transcription	Pancreas	Pancrea
4	chr5:94968600-94974000	Weak transcription	GM12878-XiMat	blood
5	chr5:94969600-94976600	Weak transcription	Fetal Intestine Large	intestine

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