Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:4566232..4568261-chr6:4571850..4574197,2	K562	blood:
2	chr6:4565116..4567008-chr6:4567329..4569157,2	K562	blood:

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11962071	0.95[ASN][1000 genomes]
rs11962707	0.94[ASN][1000 genomes]
rs11963606	0.92[ASN][1000 genomes]
rs17138531	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2016920	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs382186	0.85[ASN][1000 genomes]
rs4140436	1.00[EUR][1000 genomes]
rs420580	0.85[ASN][1000 genomes]
rs58440707	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58819824	1.00[EUR][1000 genomes]
rs58901337	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59123449	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59130603	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59668969	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61626939	0.98[ASN][1000 genomes]
rs61693763	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73359389	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73717400	0.98[ASN][1000 genomes]
rs73719818	0.97[ASN][1000 genomes]
rs73719819	0.97[ASN][1000 genomes]
rs73719822	0.94[ASN][1000 genomes]
rs7747007	0.85[ASN][1000 genomes]
rs7751465	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7755263	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7764506	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7768719	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs84996	0.82[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	esv3421990	chr6:4446933-4659639	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830576	chr6:4447554-4610604	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv3366530	chr6:4471528-4865322	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv883415	chr6:4546491-4629654	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4560000-4572400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:4563800-4566800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:4564000-4577800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:4565000-4568600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:4565600-4566600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:4565800-4568000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr6:4565800-4568000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr6:4566000-4568400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr6:4566000-4568400	Weak transcription	Placenta	Placenta
10	chr6:4566400-4568400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:4566400-4568400	Enhancers	NHEK	skin

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