Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:77560743..77563432-chr1:77569835..77572448,2	K562	blood:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1098123	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1098124	1.00[EUR][1000 genomes]
rs1098127	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1721152	0.91[AMR][1000 genomes]
rs1779182	0.91[AMR][1000 genomes]
rs2177430	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2653470	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2799565	0.91[AMR][1000 genomes]
rs2799569	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58815389	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090599	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74090600	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74092420	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7546997	0.94[AFR][1000 genomes]
rs839807	0.84[AMR][1000 genomes]
rs839812	0.91[AMR][1000 genomes]
rs839817	0.91[AMR][1000 genomes]
rs839819	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs839833	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs839837	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs839838	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs839839	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv1003826	chr1:76965331-77656929	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv535006	chr1:76965331-77656929	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv830292	chr1:77425571-77584307	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1006887	chr1:77566348-77698128	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77555000-77577800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:77556000-77614400	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr1:77562400-77580600	Weak transcription	Primary T cells from cord blood	blood
4	chr1:77568600-77595600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:77570800-77572400	Weak transcription	Ovary	ovary
6	chr1:77570800-77596800	Weak transcription	Left Ventricle	heart

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