Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:38950236..38951997-chr13:38953689..38955262,2	K562	blood:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10507471	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10507472	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11838417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11838861	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11839922	1.00[AMR][1000 genomes]
rs17057779	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs17057796	1.00[AMR][1000 genomes]
rs17057811	1.00[AMR][1000 genomes]
rs17057850	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs17057855	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs17057857	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs17057940	1.00[AMR][1000 genomes]
rs17057980	1.00[AMR][1000 genomes]
rs17057987	1.00[AMR][1000 genomes]
rs2231327	1.00[AMR][1000 genomes]
rs71100383	0.86[AFR][1000 genomes]
rs7326143	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7327873	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7330234	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7338651	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7983982	0.81[AFR][1000 genomes];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	nsv915901	chr13:38199035-39032633	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv869125	chr13:38550449-39132813	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv949406	chr13:38561474-39033484	Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv900006	chr13:38924871-38970825	Genic enhancers ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38951600-38959000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr13:38951600-38959400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr13:38953600-38956000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr13:38954400-38955200	Weak transcription	Ovary	ovary
5	chr13:38955000-38957400	Enhancers	Fetal Lung	lung

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