Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105681803..105683314-chr12:105684988..105687486,2	K562	blood:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs17036919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17036923	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2116676	1.00[EUR][1000 genomes]
rs2116677	1.00[EUR][1000 genomes]
rs4372554	1.00[EUR][1000 genomes]
rs4544094	1.00[EUR][1000 genomes]
rs57877894	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61480639	0.83[ASN][1000 genomes]
rs72487518	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7296708	1.00[EUR][1000 genomes]
rs73399760	0.85[ASN][1000 genomes]
rs73399763	1.00[EUR][1000 genomes]
rs73399769	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73399775	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73399778	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73399779	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73399781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73399787	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73399794	1.00[EUR][1000 genomes]
rs73401704	1.00[EUR][1000 genomes]
rs73401705	1.00[EUR][1000 genomes]
rs73401708	1.00[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	nsv899499	chr12:105616297-105722529	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv510589	chr12:105670071-105743755	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105683400-105688600	Weak transcription	NHEK	skin
2	chr12:105686000-105687200	Enhancers	HUVEC	blood vessel
3	chr12:105686200-105686800	Enhancers	Aorta	Aorta
4	chr12:105686200-105687200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr12:105686400-105686800	Flanking Active TSS	A549	lung
6	chr12:105686400-105687200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:105686400-105687200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr12:105686600-105686800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:105686600-105686800	Enhancers	Fetal Intestine Large	intestine
10	chr12:105686600-105687200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:105686600-105687200	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr12:105686600-105687200	Enhancers	Osteobl	bone
13	chr12:105686600-105688800	Weak transcription	Stomach Mucosa	stomach
14	chr12:105686600-105689000	Enhancers	Fetal Intestine Small	intestine

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