Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:28986053..28988845-chr22:29188910..29191071,2	K562	blood:
2	chr22:28987741..28989762-chr22:29021256..29024194,2	K562	blood:

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

rs_ID	r²[population]
rs12157518	0.82[ASN][1000 genomes]
rs12159502	0.94[EUR][1000 genomes]
rs16986377	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16986462	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16986548	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58427200	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5997363	0.86[ASN][1000 genomes]
rs5997365	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5997367	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5997369	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5997372	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6005758	0.82[ASN][1000 genomes]
rs6005765	0.82[ASN][1000 genomes]
rs6005779	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6005780	0.85[EUR][1000 genomes]
rs6005783	0.85[EUR][1000 genomes]
rs6005789	0.80[AFR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6005793	0.80[AFR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6005822	0.85[AFR][1000 genomes]
rs6005829	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6005833	0.82[AFR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6005834	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73428082	0.86[ASN][1000 genomes]
rs73428096	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73430108	0.88[EUR][1000 genomes];0.86[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	nsv1067544	chr22:28755418-29055246	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
2	nsv544674	chr22:28755418-29055246	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv588880	chr22:28807277-29001789	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
4	nsv916473	chr22:28837041-29215603	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 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	chr22:28956800-28993200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr22:28967800-28991600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr22:28967800-28997600	Weak transcription	HepG2	liver
4	chr22:28979200-28991400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr22:28979200-28993600	Weak transcription	Fetal Stomach	stomach
6	chr22:28979600-28990400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr22:28980000-28990600	Weak transcription	Colon Smooth Muscle	Colon
8	chr22:28980400-28990600	Weak transcription	NHLF	lung
9	chr22:28981400-28989400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr22:28981600-28990400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr22:28985600-28988800	Weak transcription	Dnd41	blood

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