Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:117912430..117915010-chr8:117915737..117918233,2	K562	blood:

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

rs_ID	r²[population]
rs11984783	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11986244	1.00[AMR][1000 genomes]
rs11988252	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11988890	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11992843	1.00[AMR][1000 genomes]
rs11993461	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11995008	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11998115	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16888867	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16888873	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16888957	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16888968	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16888995	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16889027	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16889103	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16889160	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17435839	1.00[AMR][1000 genomes]
rs34316616	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58084260	1.00[AMR][1000 genomes]
rs61637286	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv831434	chr8:117784467-117977825	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117911200-117914000	Enhancers	Dnd41	blood
2	chr8:117912800-117915600	Enhancers	Hela-S3	cervix
3	chr8:117913000-117914400	Enhancers	HSMMtube	muscle
4	chr8:117913200-117914600	Enhancers	NHEK	skin
5	chr8:117913200-117915800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:117913200-117915800	Enhancers	HMEC	breast
7	chr8:117913400-117913800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:117913400-117914200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:117913400-117914400	Enhancers	Placenta Amnion	Placenta Amnion
10	chr8:117913400-117914600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:117913400-117914800	Enhancers	GM12878-XiMat	blood

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