Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:95722266..95723777-chr5:95725799..95728027,2	K562	blood:

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10039299	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10055431	1.00[ASN][1000 genomes]
rs10061609	1.00[ASN][1000 genomes]
rs10476677	1.00[ASN][1000 genomes]
rs10476678	1.00[ASN][1000 genomes]
rs10476679	1.00[ASN][1000 genomes]
rs10476680	1.00[ASN][1000 genomes]
rs12332412	1.00[ASN][1000 genomes]
rs13361555	1.00[ASN][1000 genomes]
rs13435942	1.00[ASN][1000 genomes]
rs13436661	1.00[ASN][1000 genomes]
rs28585673	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28615471	1.00[ASN][1000 genomes]
rs28873541	1.00[ASN][1000 genomes]
rs55687197	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58441337	1.00[ASN][1000 genomes]
rs61355142	1.00[ASN][1000 genomes]
rs6231	0.83[EUR][1000 genomes]
rs6865757	1.00[ASN][1000 genomes]
rs6875161	1.00[ASN][1000 genomes]
rs6892752	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6897254	1.00[ASN][1000 genomes]
rs73772347	1.00[ASN][1000 genomes]
rs73772387	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7711171	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7725103	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1030444	chr5:95353620-95995619	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv537810	chr5:95353620-95995619	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95718800-95726800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr5:95720400-95723400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:95720400-95727000	Weak transcription	Right Atrium	heart
4	chr5:95720400-95732000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:95720600-95723600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr5:95720800-95723200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:95720800-95723800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:95720800-95723800	Weak transcription	NHDF-Ad	bronchial
9	chr5:95720800-95745400	Weak transcription	Brain Angular Gyrus	brain
10	chr5:95721000-95723000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:95721000-95723600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr5:95721000-95728000	Weak transcription	HMEC	breast
13	chr5:95721000-95738400	Weak transcription	Hela-S3	cervix

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