Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:30507863..30511356-chr12:30514045..30517303,4	K562	blood:

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12302529	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58374057	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73073973	1.00[EUR][1000 genomes]
rs73073976	1.00[EUR][1000 genomes]
rs73073979	1.00[EUR][1000 genomes]
rs73073983	1.00[EUR][1000 genomes]
rs73073990	1.00[EUR][1000 genomes]
rs73073995	1.00[EUR][1000 genomes]
rs73073998	1.00[EUR][1000 genomes]
rs73075843	1.00[EUR][1000 genomes]
rs73075845	1.00[EUR][1000 genomes]
rs73075846	1.00[EUR][1000 genomes]
rs73075848	1.00[EUR][1000 genomes]
rs73075849	1.00[EUR][1000 genomes]
rs73075850	1.00[EUR][1000 genomes]
rs73075854	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73077711	1.00[AMR][1000 genomes]
rs73077754	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73079866	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73079882	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73081831	1.00[EUR][1000 genomes]
rs73081846	1.00[EUR][1000 genomes]
rs73081852	1.00[EUR][1000 genomes]
rs73088524	1.00[EUR][1000 genomes]
rs73088540	1.00[EUR][1000 genomes]
rs73090544	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832360	chr12:30393329-30555693	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	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
3	esv2754065	chr12:30499833-30560733	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30510200-30511800	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr12:30510200-30512400	Enhancers	Fetal Lung	lung
3	chr12:30510600-30512200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr12:30510800-30511200	Enhancers	Adipose Nuclei	Adipose
5	chr12:30510800-30511200	Enhancers	Fetal Stomach	stomach
6	chr12:30510800-30511400	Enhancers	Left Ventricle	heart
7	chr12:30510800-30511400	Enhancers	Lung	lung
8	chr12:30510800-30512000	Enhancers	Right Atrium	heart
9	chr12:30510800-30512400	Enhancers	Fetal Heart	heart

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