Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:30659100..30661387-chr12:30684901..30687709,2	K562	blood:

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

rs_ID	r²[population]
rs10771711	1.00[ASN][1000 genomes]
rs10771737	0.82[AMR][1000 genomes]
rs10771738	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1354713	1.00[ASN][1000 genomes]
rs1506386	1.00[ASN][1000 genomes]
rs1506389	1.00[ASN][1000 genomes]
rs1506390	1.00[ASN][1000 genomes]
rs1506393	1.00[ASN][1000 genomes]
rs1553231	1.00[ASN][1000 genomes]
rs1588006	1.00[ASN][1000 genomes]
rs1872366	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1994243	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2133688	1.00[ASN][1000 genomes]
rs354098	1.00[ASN][1000 genomes]
rs4931336	1.00[ASN][1000 genomes]
rs6487916	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6487917	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7301701	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302894	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311808	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs794167	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7958461	1.00[ASN][1000 genomes]
rs7968211	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7968413	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[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	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1050233	chr12:30590071-30670919	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30657800-30661800	Enhancers	HepG2	liver
2	chr12:30658400-30661400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr12:30659800-30660200	Active TSS	Liver	Liver

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