Variant report

No.	Distal block	Cell Line	Cell type
1	chr20:53062391..53065674-chr20:53071896..53077511,6	MCF-7	breast:
2	chr20:53057603..53060260-chr20:53065002..53067209,2	K562	blood:
3	chr20:53046706..53049615-chr20:53062995..53067004,4	MCF-7	breast:
4	chr20:52882962..52884659-chr20:53063631..53065695,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12329481	0.80[EUR][1000 genomes]
rs16999643	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55665963	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55957910	0.84[AMR][1000 genomes]
rs58143732	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6014019	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6014020	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6023245	0.80[EUR][1000 genomes]
rs6023247	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6023248	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6023251	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6023253	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6023254	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6023258	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60780716	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6091886	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6097986	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6097987	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6097998	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6097999	0.85[EUR][1000 genomes]
rs7264053	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7264143	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7271481	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7271579	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73141254	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73141258	0.89[AMR][1000 genomes];0.87[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	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:53062200-53066200	Weak transcription	Right Atrium	heart
2	chr20:53064800-53066800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

Quick Search: