Variant report

No.	Distal block	Cell Line	Cell type
1	chr21:16938516..16940926-chr21:16955755..16957266,2	MCF-7	breast:
2	chr21:16930194..16932868-chr21:16938815..16941325,2	K562	blood:
3	chr21:16936242..16938072-chr21:16938632..16941243,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs2064049	0.96[EUR][1000 genomes]
rs2064050	0.96[EUR][1000 genomes]
rs2064051	0.96[EUR][1000 genomes]
rs2065236	0.96[EUR][1000 genomes]
rs2142485	0.95[EUR][1000 genomes]
rs2242843	0.87[EUR][1000 genomes]
rs2242844	0.87[EUR][1000 genomes]
rs2242845	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2823375	0.82[EUR][1000 genomes]
rs2823376	0.85[EUR][1000 genomes]
rs2823379	0.96[EUR][1000 genomes]
rs2823380	0.92[EUR][1000 genomes]
rs6517486	0.82[EUR][1000 genomes]
rs6517488	0.87[EUR][1000 genomes]
rs6517490	0.91[TSI][hapmap];0.85[EUR][1000 genomes]
rs6517495	0.96[EUR][1000 genomes]
rs6517496	0.96[EUR][1000 genomes]
rs6517497	0.96[EUR][1000 genomes]
rs7279322	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7279355	0.96[EUR][1000 genomes]
rs7282804	0.87[EUR][1000 genomes]
rs8129285	0.83[EUR][1000 genomes]
rs8134968	0.89[CEU][hapmap];0.97[EUR][1000 genomes]
rs9975051	0.87[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	nsv1064280	chr21:16664312-17049272	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv2758530	chr21:16912646-17096678	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2758810	chr21:16912646-17096678	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv528246	chr21:16935888-16980039	Enhancers Weak transcription Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2065237	BTG3	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16937200-16939800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr21:16937800-16940200	Weak transcription	Fetal Intestine Large	intestine

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