Variant report

Variant	rs6091886
Chromosome Location	chr20:53085509-53085510
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:53083713..53086465-chr20:53104546..53106950,2	MCF-7	breast:
2	chr20:53084969..53087855-chr20:53094880..53097639,2	MCF-7	breast:
3	chr20:52834058..52838026-chr20:53082960..53086578,4	MCF-7	breast:
4	chr1:121484545..121485361-chr20:53085285..53086007,2	MCF-7	breast:
5	chr20:52209472..52211253-chr20:53083989..53086428,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171940	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10485784	1.00[GIH][hapmap]
rs12329481	1.00[CEU][hapmap];0.82[AMR][1000 genomes]
rs13042185	0.87[CEU][hapmap]
rs13042986	0.88[CEU][hapmap]
rs13044898	0.88[CEU][hapmap]
rs1330017	0.88[CEU][hapmap]
rs16999643	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55665963	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55957910	0.85[EUR][1000 genomes]
rs56302497	0.85[EUR][1000 genomes]
rs58143732	0.93[EUR][1000 genomes]
rs6014019	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6014020	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6014027	0.88[CEU][hapmap]
rs6014032	0.88[CEU][hapmap]
rs6014059	1.00[GIH][hapmap]
rs6023244	1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap]
rs6023245	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.82[AMR][1000 genomes]
rs6023247	0.86[AMR][1000 genomes]
rs6023251	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6023253	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6023254	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6023258	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6023262	0.87[AMR][1000 genomes]
rs6023263	0.83[AMR][1000 genomes]
rs6023266	0.83[EUR][1000 genomes]
rs6023272	0.88[CEU][hapmap]
rs6023273	0.88[CEU][hapmap]
rs6023274	0.88[CEU][hapmap]
rs6023275	0.88[CEU][hapmap]
rs6023276	0.88[CEU][hapmap]
rs6023291	0.88[CEU][hapmap]
rs6023307	0.88[CEU][hapmap]
rs6023309	0.88[CEU][hapmap]
rs6023383	1.00[GIH][hapmap]
rs6068930	1.00[GIH][hapmap]
rs60780716	0.93[EUR][1000 genomes]
rs6091887	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6091891	0.88[CEU][hapmap]
rs6097986	0.86[AMR][1000 genomes]
rs6097987	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6097988	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6097998	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6097999	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6098002	0.82[AMR][1000 genomes]
rs6098006	0.88[CEU][hapmap]
rs6098007	0.88[CEU][hapmap]
rs6098008	0.88[CEU][hapmap]
rs6098009	0.88[CEU][hapmap]
rs6098011	0.88[CEU][hapmap]
rs6098099	1.00[GIH][hapmap]
rs6098118	1.00[GIH][hapmap]
rs68091706	0.83[EUR][1000 genomes]
rs7264053	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7264143	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7271481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7271579	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73141254	0.85[EUR][1000 genomes]
rs73141258	0.94[EUR][1000 genomes]
rs873078	1.00[GIH][hapmap]
rs922398	0.88[CEU][hapmap]

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	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases
2	nsv834011	chr20:52858341-53086042	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
3	nsv834012	chr20:52921007-53097177	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6091886	ZNF217	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:53084800-53091800	Weak transcription	Aorta	Aorta
2	chr20:53085200-53085600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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