Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:188179679..188182159-chr2:188184415..188186221,2	K562	blood:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10185171	0.87[YRI][hapmap]
rs10208660	1.00[AMR][1000 genomes]
rs10221647	1.00[AMR][1000 genomes]
rs10439309	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13389476	1.00[AMR][1000 genomes]
rs13396869	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13405040	1.00[AMR][1000 genomes]
rs13412597	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13419272	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs13430432	0.87[MKK][hapmap]
rs28475020	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6723440	1.00[AMR][1000 genomes]
rs6723480	1.00[AMR][1000 genomes]
rs8176438	1.00[AMR][1000 genomes]
rs8176451	1.00[AMR][1000 genomes]
rs8176458	0.88[LWK][hapmap];0.86[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs8176465	1.00[AMR][1000 genomes]
rs8176483	1.00[AMR][1000 genomes]
rs8176515	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs9808448	1.00[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	nsv949700	chr2:187713412-188361211	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1003061	chr2:187950057-188282330	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1000617	chr2:187950057-188290511	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv533935	chr2:188089148-188284766	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr2:188175800-188180800	Weak transcription	HUVEC	blood vessel

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