Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:173477785..173479364-chr1:173506980..173508518,2	K562	blood:
2	chr1:173446072..173448029-chr1:173478840..173480491,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000117592	Chromatin interaction

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

rs_ID	r²[population]
rs12065426	0.86[ASN][1000 genomes]
rs12077271	0.85[ASN][1000 genomes]
rs12080769	0.86[ASN][1000 genomes]
rs12565753	0.85[ASN][1000 genomes]
rs12745058	0.85[ASN][1000 genomes]
rs33951697	0.83[ASN][1000 genomes]
rs34025182	0.86[ASN][1000 genomes]
rs34332254	0.86[ASN][1000 genomes]
rs35379498	0.86[ASN][1000 genomes]
rs35607505	0.85[ASN][1000 genomes]
rs57032935	0.85[ASN][1000 genomes]
rs61828886	0.83[ASN][1000 genomes]
rs61828887	0.82[ASN][1000 genomes]
rs61828888	0.82[ASN][1000 genomes]
rs6696443	0.85[ASN][1000 genomes]
rs67180872	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72637251	0.84[AMR][1000 genomes]
rs7413754	0.85[ASN][1000 genomes]
rs7516544	0.85[ASN][1000 genomes]
rs7521536	0.86[ASN][1000 genomes]
rs7524403	0.86[ASN][1000 genomes]
rs7524592	0.86[ASN][1000 genomes]
rs7525100	0.86[ASN][1000 genomes]
rs7529089	0.86[ASN][1000 genomes]
rs7529377	0.86[ASN][1000 genomes]
rs912767	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831915	chr1:173268424-173482157	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173476800-173479200	Weak transcription	Fetal Intestine Small	intestine
2	chr1:173478600-173479600	Enhancers	Fetal Intestine Large	intestine
3	chr1:173479000-173479200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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