Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:16930194..16932868-chr21:16938815..16941325,2	K562	blood:
2	chr21:16940802..16942430-chr21:16945970..16948560,2	MCF-7	breast:

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

rs_ID	r²[population]
rs2064049	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2064050	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2064051	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2065236	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2065237	0.92[EUR][1000 genomes]
rs2142485	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2242843	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2242844	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2242845	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs2823379	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2896711	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6517488	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6517490	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6517495	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6517496	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6517497	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7279322	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7279355	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7282804	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs8134968	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9975051	0.96[ASN][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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16940200-16941400	Enhancers	Fetal Intestine Large	intestine

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