Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:178925975..178933021-chr2:178933088..178941034,14	K562	blood:
2	chr2:178926269..178929129-chr2:178929481..178932913,3	K562	blood:
3	chr2:178926269..178928564-chr2:178929481..178932343,4	K562	blood:
4	chr2:178925606..178928740-chr2:178934348..178939352,5	K562	blood:

Variant related genes	Relation type
ENSG00000128655	Chromatin interaction

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

rs_ID	r²[population]
rs1370657	0.90[AFR][1000 genomes]
rs1438052	0.95[AFR][1000 genomes]
rs1898588	0.90[AFR][1000 genomes]
rs2573086	0.84[AFR][1000 genomes]
rs2695095	0.88[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2695096	0.88[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2695106	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2695114	0.84[AFR][1000 genomes]
rs2695720	0.88[YRI][hapmap];0.95[AFR][1000 genomes]
rs2695721	0.88[YRI][hapmap];0.95[AFR][1000 genomes]
rs2695723	0.89[YRI][hapmap]
rs2695725	0.88[YRI][hapmap]
rs2695727	0.89[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2695759	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56189218	1.00[AFR][1000 genomes]
rs56230218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56300810	0.84[AFR][1000 genomes]
rs6752913	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73972662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73972663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73972665	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73972667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73972668	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73972669	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9283485	0.90[AFR][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	nsv533377	chr2:178718801-178963463	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv875451	chr2:178748294-178953409	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr2:178924800-178931200	Weak transcription	Pancreas	Pancrea

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