Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:50039194..50040697-chr15:50041182..50044169,2	K562	blood:
2	chr15:50041093..50042793-chr15:50043396..50046238,2	K562	blood:

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

rs_ID	r²[population]
rs12372954	0.93[AMR][1000 genomes]
rs16962848	0.95[AMR][1000 genomes]
rs2444049	0.98[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2449860	0.85[AMR][1000 genomes]
rs2449861	0.95[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2452528	0.98[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2452531	0.95[AMR][1000 genomes]
rs2456844	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2456845	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs500721	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs504287	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs514103	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs515764	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs516375	0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs517523	0.94[ASN][1000 genomes]
rs554725	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs56711987	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs686620	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs691215	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs691741	0.97[ASN][1000 genomes]
rs691852	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs692106	0.95[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs692391	0.94[ASN][1000 genomes]
rs692531	0.91[AMR][1000 genomes];0.97[ASN][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	nsv1044277	chr15:49921547-50702386	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542380	chr15:49921547-50702386	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 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	chr15:50040000-50042600	Enhancers	K562	blood
2	chr15:50040800-50041200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr15:50041000-50041400	Enhancers	Colon Smooth Muscle	Colon

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