Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:185451331..185454205-chr2:185458051..185460305,2	K562	blood:
2	chr2:185455887..185460483-chr2:185460704..185465293,6	K562	blood:

Variant related genes	Relation type
ENSG00000170396	Chromatin interaction

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10497657	1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes]
rs10497659	0.80[AMR][1000 genomes]
rs10497660	0.80[AMR][1000 genomes]
rs17430952	0.89[CEU][hapmap]
rs17430973	0.89[CEU][hapmap]
rs17431153	0.80[AMR][1000 genomes]
rs17431258	1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap]
rs17508767	0.89[CEU][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap]
rs17508905	0.89[CEU][hapmap]
rs17509003	0.89[CEU][hapmap]
rs72899952	0.80[AMR][1000 genomes]
rs72899961	0.80[AMR][1000 genomes]
rs72899964	0.80[AMR][1000 genomes]
rs72899966	0.80[AMR][1000 genomes]
rs72899969	0.80[AMR][1000 genomes]
rs72899975	0.80[AMR][1000 genomes]
rs72899976	0.80[AMR][1000 genomes]
rs72899981	0.80[AMR][1000 genomes]
rs72899983	0.80[AMR][1000 genomes]
rs72899986	0.80[AMR][1000 genomes]
rs72901820	0.80[AMR][1000 genomes]
rs72901831	0.80[AMR][1000 genomes]
rs72901834	0.80[AMR][1000 genomes]
rs72901836	0.80[AMR][1000 genomes]
rs72901840	0.80[AMR][1000 genomes]
rs72901862	0.80[AMR][1000 genomes]
rs72901873	0.80[AMR][1000 genomes]
rs72901885	0.80[AMR][1000 genomes]
rs72901893	0.80[AMR][1000 genomes]
rs72901901	0.80[AMR][1000 genomes]
rs72903720	0.80[AMR][1000 genomes]
rs72903723	0.80[AMR][1000 genomes]
rs72903763	0.80[AMR][1000 genomes]
rs72903776	0.80[AMR][1000 genomes]
rs72903778	0.80[AMR][1000 genomes]
rs72903792	0.80[AMR][1000 genomes]
rs72903798	0.80[AMR][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	nsv875497	chr2:185134237-185474770	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
2	nsv875512	chr2:185300641-185474770	Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv532412	chr2:185347334-186108701	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	esv1818452	chr2:185428946-185503154	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:185454000-185459600	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr2:185457000-185459600	Strong transcription	Monocytes-CD14+_RO01746	blood

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