Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:178736620..178738806-chr2:178741458..178743918,2	K562	blood:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10174152	0.93[YRI][hapmap]
rs10186697	1.00[AMR][1000 genomes]
rs10195518	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs13382373	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13384920	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13385419	0.83[AMR][1000 genomes]
rs13387463	0.81[YRI][hapmap]
rs13395151	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13398395	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13398604	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13399957	0.83[AMR][1000 genomes]
rs13403540	0.93[YRI][hapmap]
rs13406220	0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs13426284	0.83[AMR][1000 genomes]
rs13427600	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13429906	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60230155	1.00[AMR][1000 genomes]
rs7556748	1.00[YRI][hapmap]
rs7569124	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9973525	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][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	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv533377	chr2:178718801-178963463	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1007579	chr2:178729330-178890946	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr2:178734400-178744800	Weak transcription	Psoas Muscle	Psoas
2	chr2:178735400-178738800	Weak transcription	Adipose Nuclei	Adipose
3	chr2:178736200-178743000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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