Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:120073225..120075222-chr12:120079539..120081654,2	MCF-7	breast:
2	chr12:120079622..120081947-chr12:120086294..120088145,2	K562	blood:

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10774503	0.82[AMR][1000 genomes]
rs10774508	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10849680	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11064844	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11064845	0.89[EUR][1000 genomes]
rs11064846	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11064847	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11064849	0.80[EUR][1000 genomes]
rs11064850	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1109855	0.81[AMR][1000 genomes]
rs12306215	0.82[AMR][1000 genomes]
rs2393522	0.90[EUR][1000 genomes]
rs2393523	0.90[EUR][1000 genomes]
rs2393524	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34500179	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6490259	0.82[AMR][1000 genomes]
rs7138221	0.90[EUR][1000 genomes]
rs7138756	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7301592	0.83[AMR][1000 genomes]
rs7310148	0.94[EUR][1000 genomes]
rs7310536	0.90[EUR][1000 genomes]
rs7311445	0.94[EUR][1000 genomes]
rs7311779	0.82[AMR][1000 genomes]
rs7312321	0.82[AMR][1000 genomes]
rs739422	0.82[EUR][1000 genomes]
rs7955119	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7963332	0.90[EUR][1000 genomes]
rs7972445	0.90[EUR][1000 genomes]
rs7973772	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7978755	0.89[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	nsv1052595	chr12:119992580-120132038	Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv541616	chr12:119992580-120132038	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120059200-120083400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr12:120068600-120082200	Weak transcription	HSMMtube	muscle
3	chr12:120071400-120081600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr12:120079200-120081600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr12:120079600-120082400	Weak transcription	HSMM	muscle
6	chr12:120080000-120082200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr12:120081200-120081800	Enhancers	Psoas Muscle	Psoas

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