Variant report

No.	Distal block	Cell Line	Cell type
1	chr16:71457633..71459826-chr16:71493522..71496195,3	K562	blood:
2	chr16:71456240..71458777-chr16:71460863..71462681,2	MCF-7	breast:
3	chr16:71451545..71453990-chr16:71457536..71460317,2	K562	blood:

Variant related genes	Relation type
ENSG00000167377	Chromatin interaction
ENSG00000247324	Chromatin interaction

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

rs_ID	r²[population]
rs10468265	0.90[CEU][hapmap]
rs12149254	0.98[EUR][1000 genomes]
rs12325234	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs12444212	0.84[EUR][1000 genomes]
rs12444714	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs12448992	0.98[EUR][1000 genomes]
rs12918320	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs12919092	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs12922597	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12922830	0.90[EUR][1000 genomes]
rs16972808	0.89[CEU][hapmap]
rs16973112	0.89[CEU][hapmap]
rs16973190	0.89[CEU][hapmap]
rs17343777	0.84[EUR][1000 genomes]
rs2052873	0.89[CEU][hapmap]
rs34400718	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35166226	0.86[EUR][1000 genomes]
rs3886947	0.89[CEU][hapmap]
rs66778248	0.98[EUR][1000 genomes]
rs8051439	0.89[CEU][hapmap]
rs8056735	0.89[CEU][hapmap]

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	nsv949461	chr16:71196153-71579711	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv1064435	chr16:71440719-71488771	Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr16:71446800-71459600	Weak transcription	Spleen	Spleen
2	chr16:71455800-71458800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr16:71457000-71461000	Weak transcription	Right Atrium	heart

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