Variant report

Variant	rs2048653
Chromosome Location	chr8:9689110-9689111
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:9617693..9618675-chr8:9688115..9689212,3	K562	blood:
2	chr8:9178042..9178608-chr8:9688275..9689205,2	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10098119	0.83[EUR][1000 genomes]
rs11249961	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11249963	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11783922	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12114434	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12114435	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12114977	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12540961	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12544850	0.86[AFR][1000 genomes]
rs12547274	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12548657	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12550323	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13251619	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13260533	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1567837	0.80[ASN][1000 genomes]
rs17150534	0.86[ASN][1000 genomes]
rs17150543	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2048654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2409618	1.00[CEU][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28538374	0.91[EUR][1000 genomes]
rs4840447	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4840448	0.90[AFR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61060597	0.81[EUR][1000 genomes]
rs6601383	1.00[CEU][hapmap]
rs6980545	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6984624	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6984939	0.81[ASN][1000 genomes]
rs6988507	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7002962	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7018379	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73662549	0.91[EUR][1000 genomes]
rs7823438	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9644712	0.95[EUR][1000 genomes]
rs9657510	0.91[AMR][1000 genomes];1.00[EUR][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	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv16865	chr8:9642195-9712807	Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9688200-9690400	Enhancers	HepG2	liver
2	chr8:9689000-9689200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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