Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:57093284..57096494-chr1:57097572..57100834,3	K562	blood:
2	chr1:57089572..57092375-chr1:57094756..57097462,2	K562	blood:

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

rs_ID	r²[population]
rs10789036	0.83[ASN][1000 genomes]
rs11206872	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11206884	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11206886	0.83[ASN][1000 genomes]
rs12021768	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12021851	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12032999	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12078260	0.83[ASN][1000 genomes]
rs1986660	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2404986	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2404987	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2404992	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2404993	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4548471	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4562656	0.83[ASN][1000 genomes]
rs4584419	0.83[ASN][1000 genomes]
rs61774285	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61774287	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61774288	0.88[EUR][1000 genomes]
rs72666470	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7519509	0.83[ASN][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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2519231	chr1:57094847-57096371	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57092400-57098800	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr1:57092600-57098200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr1:57093600-57098200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:57093600-57098200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr1:57093800-57096000	Weak transcription	Hela-S3	cervix

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