Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:130403263..130407136-chr8:130409731..130411798,3	K562	blood:
2	chr8:130409293..130412110-chr8:130418175..130420281,2	K562	blood:

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1583246	0.83[ASN][1000 genomes]
rs2016932	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2568408	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2568410	0.84[ASN][1000 genomes]
rs2568412	0.84[ASN][1000 genomes]
rs2568413	0.84[ASN][1000 genomes]
rs2579862	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2579863	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2579864	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2579875	0.84[ASN][1000 genomes]
rs2579876	0.84[ASN][1000 genomes]
rs2579877	0.84[ASN][1000 genomes]
rs2579878	0.84[ASN][1000 genomes]
rs2630511	0.84[ASN][1000 genomes]
rs2630512	0.84[ASN][1000 genomes]
rs2630513	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2630515	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2630516	0.85[ASN][1000 genomes]
rs2719194	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2719204	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2719222	0.84[ASN][1000 genomes]
rs7827080	0.84[ASN][1000 genomes]
rs7827184	0.84[ASN][1000 genomes]
rs7827239	0.84[ASN][1000 genomes]
rs7827366	0.84[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	nsv429942	chr8:130397818-130460011	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 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	chr8:130394800-130411800	Strong transcription	K562	blood
2	chr8:130407000-130411800	Weak transcription	Dnd41	blood
3	chr8:130410200-130434600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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