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:26)

rs_ID	r²[population]
rs1330959	0.84[YRI][hapmap];1.00[AMR][1000 genomes]
rs2455409	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2455411	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2481878	0.84[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2481881	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2481882	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2481883	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2485772	1.00[AMR][1000 genomes]
rs2485776	1.00[AMR][1000 genomes]
rs2485781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2485784	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2485787	0.84[YRI][hapmap];1.00[AMR][1000 genomes]
rs2496467	0.84[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2496469	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2496472	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2496474	0.82[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59701754	1.00[AMR][1000 genomes]
rs672502	1.00[AMR][1000 genomes]
rs685649	1.00[AMR][1000 genomes]
rs73466319	1.00[AMR][1000 genomes]
rs74047556	1.00[AMR][1000 genomes]
rs7991512	1.00[AMR][1000 genomes]
rs9594272	1.00[AMR][1000 genomes]
rs9594277	1.00[AMR][1000 genomes]
rs9603377	1.00[AMR][1000 genomes]
rs9603379	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:3 , 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

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