Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:52622694..52625082-chr20:52673382..52675539,2	K562	blood:
2	chr17:56707492..56709260-chr20:52622676..52625192,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000212195	Chromatin interaction

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11699406	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs158539	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs158541	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs158546	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs158549	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs158550	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs208642	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs208644	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs290384	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs290388	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs290390	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs290417	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs290421	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs290453	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs290456	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs290457	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs290458	0.85[EUR][1000 genomes]
rs290459	0.84[EUR][1000 genomes]
rs290462	0.87[EUR][1000 genomes]
rs290466	0.87[EUR][1000 genomes]
rs290471	0.87[EUR][1000 genomes]
rs378782	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs71623	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34060	chr20:52251863-52702186	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	296 gene(s)	inside rSNPs	diseases
2	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 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	chr20:52566400-52644800	Weak transcription	Gastric	stomach
2	chr20:52601800-52630800	Weak transcription	Stomach Mucosa	stomach
3	chr20:52618800-52644400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr20:52619000-52630600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr20:52619800-52625200	Weak transcription	Fetal Stomach	stomach
6	chr20:52623600-52624000	Enhancers	Brain Anterior Caudate	brain
7	chr20:52623600-52625200	Enhancers	Brain Substantia Nigra	brain
8	chr20:52623800-52624000	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr20:52623800-52624200	Weak transcription	Brain Hippocampus Middle	brain
10	chr20:52623800-52624800	Weak transcription	Brain Angular Gyrus	brain
11	chr20:52623800-52625000	Enhancers	Brain Cingulate Gyrus	brain

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