Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:4158340..4161445-chr12:4167937..4171532,3	K562	blood:
2	chr12:4165421..4167716-chr12:4167948..4169953,2	K562	blood:

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

rs_ID	r²[population]
rs11831812	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs11838249	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2429453	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2532532	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2532533	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2532535	0.97[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2532575	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2532576	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2532578	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2540143	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2540144	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2540145	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2540146	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2540147	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2540150	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2724206	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2724231	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2724232	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2724233	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2724238	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4525313	0.97[YRI][hapmap];0.91[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs55772551	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs73259527	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs74058994	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs7973836	0.88[AFR][1000 genomes];0.86[AMR][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	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv832316	chr12:3981184-4180381	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4157000-4169000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr12:4160400-4169200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:4167800-4169000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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