Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:45427977..45429589-chr12:45429977..45431786,2	K562	blood:

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11182799	0.95[CHB][hapmap];0.85[YRI][hapmap];0.94[AMR][1000 genomes]
rs11182800	1.00[CHB][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs11830299	0.92[AMR][1000 genomes]
rs11836961	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11837935	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12301265	0.97[ASN][1000 genomes]
rs12304054	0.89[AMR][1000 genomes]
rs12313452	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1495041	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17095370	0.81[AMR][1000 genomes]
rs17095379	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17095386	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2160987	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57404677	0.98[AFR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59211662	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59431125	0.81[AMR][1000 genomes]
rs7138268	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7298235	0.97[ASN][1000 genomes]
rs73275543	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs73275548	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs74080428	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7976293	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs978696	0.84[AMR][1000 genomes];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	esv3351644	chr12:45345597-45529449	Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1045857	chr12:45351172-45468784	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv541485	chr12:45351172-45468784	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr12:45428000-45430200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr12:45429000-45430200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr12:45429800-45430200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain

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