Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:124547212..124549096-chr12:124550673..124553525,3	K562	blood:

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10846598	1.00[ASN][1000 genomes]
rs1631624	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1686728	0.84[YRI][hapmap];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1686757	0.86[AMR][1000 genomes]
rs1716375	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1716378	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1716403	1.00[ASN][1000 genomes]
rs1716409	1.00[ASN][1000 genomes]
rs2451323	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2451325	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2460759	0.85[AMR][1000 genomes]
rs4765041	1.00[ASN][1000 genomes]
rs55673100	0.87[EUR][1000 genomes]
rs707333	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7138055	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs825454	1.00[ASN][1000 genomes]
rs825457	1.00[ASN][1000 genomes]
rs825462	0.87[EUR][1000 genomes]
rs825464	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs825466	1.00[ASN][1000 genomes]
rs825479	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs825497	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861131	1.00[ASN][1000 genomes]
rs866640	0.96[EUR][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	nsv899580	chr12:124499542-124565258	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv455734	chr12:124511908-124772515	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv560538	chr12:124511908-124772515	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 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	chr12:124539400-124549600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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