Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:7591433..7594130-chr12:7595262..7598140,3	K562	blood:

Variant related genes	Relation type
ENSG00000177675	Chromatin interaction

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

rs_ID	r²[population]
rs10845134	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11053834	0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12300843	0.91[AMR][1000 genomes]
rs12305920	0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12306216	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12309292	0.94[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12309831	0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12312491	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12316441	0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4072796	0.94[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4072797	0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4075106	0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4131305	0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs58992912	0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs60514065	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs61742598	0.94[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs61748920	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7305170	0.94[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7485194	0.88[AMR][1000 genomes]
rs7485324	0.94[AMR][1000 genomes]
rs7487128	0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7489145	0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7965607	0.94[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7973752	0.94[AMR][1000 genomes];0.95[ASN][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	esv3350216	chr12:7432676-7604018	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv976561	chr12:7590619-7592246	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:7582600-7592200	Weak transcription	Adipose Nuclei	Adipose
2	chr12:7586600-7592400	Weak transcription	HMEC	breast
3	chr12:7587400-7592200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:7589000-7592200	Weak transcription	HUVEC	blood vessel
5	chr12:7590000-7593400	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr12:7590200-7593200	Active TSS	K562	blood
7	chr12:7591000-7593600	Active TSS	A549	lung
8	chr12:7591200-7591600	Flanking Active TSS	Placenta	Placenta
9	chr12:7591200-7591800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:7591200-7593200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr12:7591200-7593400	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr12:7591400-7591600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
13	chr12:7591400-7591600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:7591400-7592200	Weak transcription	NHEK	skin
15	chr12:7591400-7592400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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