Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105683253..105685363-chr12:105687997..105690070,2	K562	blood:
2	chr12:105682564..105686688-chr12:105688570..105690485,3	K562	blood:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs17036919	0.93[ASN][1000 genomes]
rs17036923	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2116676	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2116677	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4372554	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4544094	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72487518	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7296708	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73399763	1.00[EUR][1000 genomes]
rs73399769	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73399775	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73399778	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73399779	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73399781	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73399782	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73399787	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73399794	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73401704	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73401705	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73401708	1.00[EUR][1000 genomes];0.89[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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105687000-105692200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:105688400-105692000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:105688600-105690800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr12:105688800-105690000	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr12:105688800-105690800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr12:105689000-105691400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr12:105689000-105691600	Weak transcription	A549	lung
8	chr12:105689600-105690800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:105689800-105690800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr12:105689800-105690800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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