Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:76437063..76439745-chr1:76450449..76452475,3	K562	blood:
2	chr1:76438120..76439745-chr1:76450591..76452475,2	K562	blood:

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

rs_ID	r²[population]
rs10465725	1.00[CEU][hapmap]
rs11161872	1.00[CEU][hapmap]
rs11161947	0.83[AFR][1000 genomes]
rs11162003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11162065	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs12068640	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12080932	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12084381	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12086506	1.00[CEU][hapmap]
rs12087619	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12089337	1.00[CEU][hapmap]
rs12090389	1.00[CEU][hapmap]
rs12239656	0.84[AFR][1000 genomes]
rs17097567	1.00[CEU][hapmap]
rs17097696	1.00[CEU][hapmap]
rs17097707	1.00[CEU][hapmap]
rs17097710	1.00[CEU][hapmap]
rs17097754	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5745309	1.00[CEU][hapmap]
rs5745496	1.00[CEU][hapmap]
rs5745516	1.00[CEU][hapmap]
rs6692903	1.00[CEU][hapmap]
rs6696414	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9943136	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9970840	1.00[CEU][hapmap]

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	nsv1014072	chr1:76200531-76460726	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv535005	chr1:76200531-76460726	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv998499	chr1:76361784-76598712	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr1:76450800-76451400	Enhancers	GM12878-XiMat	blood

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