Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:12871173..12873614-chr6:12890833..12893563,2	K562	blood:

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

rs_ID	r²[population]
rs12530250	0.88[EUR][1000 genomes]
rs13197912	0.88[EUR][1000 genomes]
rs13208248	0.81[EUR][1000 genomes]
rs1332844	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2327620	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2876302	0.89[EUR][1000 genomes]
rs2876303	0.88[EUR][1000 genomes]
rs4714955	0.90[EUR][1000 genomes]
rs62389955	0.90[EUR][1000 genomes]
rs6902050	0.81[ASN][1000 genomes]
rs6911226	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6915983	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7454157	0.98[EUR][1000 genomes]
rs7750679	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7751826	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7760016	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7760527	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9296512	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9357513	0.81[ASN][1000 genomes]
rs9369640	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9381494	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9395214	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3521000	chr6:12561306-13128519	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3521001	chr6:12561306-13128519	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv830587	chr6:12769661-12939875	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv830588	chr6:12793530-12972493	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12885600-12908800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:12887600-12893800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr6:12887800-12892800	Weak transcription	NHDF-Ad	bronchial
4	chr6:12892000-12893800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr6:12892000-12893800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:12892000-12894000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr6:12892200-12893400	Weak transcription	Brain Hippocampus Middle	brain
8	chr6:12892200-12894000	Weak transcription	Brain Inferior Temporal Lobe	brain

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