Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:41249860..41251480-chr12:41252962..41255382,2	K562	blood:

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

rs_ID	r²[population]
rs10784917	0.83[ASN][1000 genomes]
rs10784918	0.83[ASN][1000 genomes]
rs11178982	0.82[EUR][1000 genomes]
rs11179040	0.80[EUR][1000 genomes]
rs1348227	0.80[AFR][1000 genomes]
rs1583956	0.88[ASN][1000 genomes]
rs167492	0.94[ASN][1000 genomes]
rs17621741	0.80[EUR][1000 genomes]
rs192852	0.94[ASN][1000 genomes]
rs2405507	0.92[ASN][1000 genomes]
rs2772458	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs312264	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs312265	0.93[ASN][1000 genomes]
rs312266	0.94[ASN][1000 genomes]
rs312267	0.90[AFR][1000 genomes]
rs312268	0.90[AFR][1000 genomes]
rs312269	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs312272	0.94[ASN][1000 genomes]
rs312273	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs312277	0.89[AFR][1000 genomes]
rs312278	0.89[AFR][1000 genomes]
rs312279	0.89[AFR][1000 genomes]
rs312280	0.82[AFR][1000 genomes]
rs312284	0.81[AFR][1000 genomes]
rs56294359	0.80[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	nsv427909	chr12:41054306-41322257	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv832380	chr12:41132306-41323961	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41226800-41266400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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