Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:49977011..49978877-chr8:49988078..49990673,2	K562	blood:
2	chr8:49986949..49989384-chr8:49993295..49995590,2	K562	blood:

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

rs_ID	r²[population]
rs11988057	1.00[AMR][1000 genomes]
rs11989446	1.00[AMR][1000 genomes]
rs11989489	1.00[AMR][1000 genomes]
rs11990190	1.00[AMR][1000 genomes]
rs11990660	1.00[AMR][1000 genomes]
rs11996810	1.00[AMR][1000 genomes]
rs16939327	1.00[AMR][1000 genomes]
rs16939335	1.00[AMR][1000 genomes]
rs16939404	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16939407	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16939409	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16939472	1.00[AMR][1000 genomes]
rs6980664	1.00[ASW][hapmap];1.00[MKK][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6986206	1.00[AMR][1000 genomes]
rs6989872	1.00[AMR][1000 genomes]
rs6991176	1.00[AMR][1000 genomes]
rs6993035	0.95[AFR][1000 genomes]
rs6997593	1.00[AMR][1000 genomes]
rs7005086	1.00[AMR][1000 genomes]
rs7017854	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7842971	1.00[AMR][1000 genomes]

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	nsv1025068	chr8:49953397-50370208	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	esv3401785	chr8:49986448-50018640	Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49984600-49991400	Weak transcription	K562	blood
2	chr8:49987200-49998800	Weak transcription	Psoas Muscle	Psoas
3	chr8:49988000-49988600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
4	chr8:49988000-49989400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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