Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105682564..105686688-chr12:105688570..105690485,3	K562	blood:
2	chr12:105681803..105683314-chr12:105684988..105687486,2	K562	blood:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs17036919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17036923	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2116676	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2116677	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4372554	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4544094	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57877894	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72487518	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7296708	1.00[EUR][1000 genomes]
rs73399757	0.84[ASN][1000 genomes]
rs73399763	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73399769	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73399775	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73399778	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73399779	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73399782	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];0.93[ASN][1000 genomes]
rs73399794	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73401704	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73401705	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73401708	1.00[EUR][1000 genomes];0.83[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	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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105682800-105686600	Weak transcription	Osteobl	bone
2	chr12:105683400-105688600	Weak transcription	NHEK	skin
3	chr12:105686000-105687200	Enhancers	HUVEC	blood vessel
4	chr12:105686200-105686600	Enhancers	Stomach Mucosa	stomach
5	chr12:105686200-105686800	Enhancers	Aorta	Aorta
6	chr12:105686200-105687200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:105686400-105686800	Flanking Active TSS	A549	lung
8	chr12:105686400-105687200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:105686400-105687200	Enhancers	Muscle Satellite Cultured Cells	--

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