Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172015432..172017151-chr2:172076472..172078352,2	K562	blood:
2	chr2:172075375..172077067-chr2:172091107..172093467,2	K562	blood:

Variant related genes	Relation type
ENSG00000198586	Chromatin interaction

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10203397	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1035250	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10930459	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11674962	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11687843	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11887065	0.84[EUR][1000 genomes]
rs11893993	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12473405	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13004356	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4667676	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4667678	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4668372	0.84[EUR][1000 genomes]
rs4668374	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4668375	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60254168	0.87[EUR][1000 genomes]
rs6433284	0.87[EUR][1000 genomes]
rs6713640	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6724085	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6737873	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7568175	0.84[EUR][1000 genomes]
rs7582508	0.83[AFR][1000 genomes];0.88[EUR][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	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 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	chr2:172073600-172081600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:172076800-172077200	Enhancers	K562	blood

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