Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:28630686..28633684-chr22:28635655..28637319,2	K562	blood:

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs13054508	0.90[AFR][1000 genomes]
rs13056121	0.80[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs13056319	0.80[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs13056425	0.89[EUR][1000 genomes]
rs13057182	0.94[EUR][1000 genomes]
rs13057685	0.81[EUR][1000 genomes]
rs13057692	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs13058473	0.89[EUR][1000 genomes]
rs13058493	0.91[AMR][1000 genomes]
rs16986197	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34176007	0.89[EUR][1000 genomes]
rs34262300	0.80[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs34453094	0.94[EUR][1000 genomes]
rs34783791	0.92[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs34925495	0.89[EUR][1000 genomes]
rs34962554	0.94[EUR][1000 genomes]
rs35051985	0.82[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs35738822	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35812775	0.94[EUR][1000 genomes]
rs71325275	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs71325276	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs71325290	0.83[EUR][1000 genomes]
rs73882724	1.00[ASN][1000 genomes]
rs8142398	0.94[EUR][1000 genomes]

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	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv459866	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv588879	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28618400-28639600	Weak transcription	Ovary	ovary
2	chr22:28618400-28662200	Weak transcription	Pancreas	Pancrea
3	chr22:28620400-28639200	Weak transcription	Left Ventricle	heart
4	chr22:28628000-28639400	Weak transcription	Fetal Heart	heart
5	chr22:28628200-28643200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr22:28628600-28639000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr22:28628600-28640800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr22:28628600-28640800	Weak transcription	NHLF	lung
9	chr22:28631400-28640800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr22:28632200-28640200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr22:28632400-28640800	Weak transcription	Aorta	Aorta
12	chr22:28633600-28639600	Weak transcription	HSMM	muscle
13	chr22:28633600-28640800	Weak transcription	HSMMtube	muscle
14	chr22:28634200-28640800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr22:28635600-28650800	Weak transcription	Dnd41	blood
16	chr22:28635800-28636400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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