Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:124547212..124549096-chr12:124550673..124553525,3	K562	blood:
2	chr12:124547553..124549096-chr12:124550673..124553525,2	K562	blood:

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10846592	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10846597	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10846599	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10846600	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11057436	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1387669	0.98[ASN][1000 genomes]
rs1686726	0.98[ASN][1000 genomes]
rs1686755	0.96[ASN][1000 genomes]
rs1716394	0.95[ASN][1000 genomes]
rs2451321	0.98[ASN][1000 genomes]
rs2451322	0.95[ASN][1000 genomes]
rs2460760	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2460761	0.98[ASN][1000 genomes]
rs61953589	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7309216	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs825458	0.94[ASN][1000 genomes]
rs825459	0.95[ASN][1000 genomes]
rs825461	0.98[ASN][1000 genomes]
rs825463	0.98[ASN][1000 genomes]
rs825465	0.98[ASN][1000 genomes]
rs825467	0.97[ASN][1000 genomes]
rs825473	0.97[ASN][1000 genomes]
rs825474	0.98[ASN][1000 genomes]
rs825475	0.98[ASN][1000 genomes]
rs825476	0.96[ASN][1000 genomes]
rs825477	0.90[ASN][1000 genomes]
rs825481	0.89[ASN][1000 genomes]
rs825482	0.89[ASN][1000 genomes]
rs825483	0.89[ASN][1000 genomes]
rs825484	0.88[ASN][1000 genomes]
rs825485	0.89[ASN][1000 genomes]
rs825486	0.89[ASN][1000 genomes]
rs844085	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv520633	chr12:124548394-124683205	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 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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