Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:68041839..68044981-chr12:68337420..68341334,5	MCF-7	breast:
2	chr12:68330507..68333392-chr12:68338678..68341151,2	K562	blood:

Variant related genes	Relation type
ENSG00000127334	Chromatin interaction

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10492202	1.00[ASN][1000 genomes]
rs10878704	1.00[ASN][1000 genomes]
rs11176947	0.98[ASN][1000 genomes]
rs11176950	0.98[ASN][1000 genomes]
rs11176951	0.98[ASN][1000 genomes]
rs11176955	0.98[ASN][1000 genomes]
rs11176956	0.95[ASN][1000 genomes]
rs11176960	1.00[ASN][1000 genomes]
rs11176962	1.00[ASN][1000 genomes]
rs11176964	1.00[ASN][1000 genomes]
rs12582501	1.00[ASN][1000 genomes]
rs17104563	0.97[ASN][1000 genomes]
rs2870807	1.00[ASN][1000 genomes]
rs4913265	1.00[ASN][1000 genomes]
rs4913372	0.98[ASN][1000 genomes]
rs4913373	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4913377	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58642438	0.89[ASN][1000 genomes]
rs60650476	0.96[ASN][1000 genomes]
rs7311772	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73322794	1.00[ASN][1000 genomes]
rs73324809	1.00[ASN][1000 genomes]
rs7954639	0.97[ASN][1000 genomes]
rs7972825	1.00[ASN][1000 genomes]
rs9888334	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3411149	chr12:68066948-68435533	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1039638	chr12:68293351-68399871	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv899219	chr12:68293419-68353649	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr12:68336800-68340000	Weak transcription	Fetal Muscle Leg	muscle
2	chr12:68336800-68341000	Weak transcription	Psoas Muscle	Psoas

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