Variant report

Variant	rs62390721
Chromosome Location	chr5:127920190-127920191
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:127919114..127923231-chr5:127925497..127928562,3	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10428638	0.87[EUR][1000 genomes]
rs11241967	1.00[EUR][1000 genomes]
rs11952739	0.92[EUR][1000 genomes]
rs13159754	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13165744	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs13168117	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13170312	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13173006	0.87[EUR][1000 genomes]
rs13174726	1.00[EUR][1000 genomes]
rs13180032	0.87[EUR][1000 genomes]
rs13182099	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13183752	0.87[EUR][1000 genomes]
rs13183908	0.84[EUR][1000 genomes]
rs13184076	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs13186044	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13186599	1.00[EUR][1000 genomes]
rs13186921	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34014539	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs34045695	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34062154	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34195715	0.87[EUR][1000 genomes]
rs34328995	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34343418	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs34404840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34502997	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34548575	0.87[EUR][1000 genomes]
rs34607368	0.87[EUR][1000 genomes]
rs34891325	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34891758	0.87[EUR][1000 genomes]
rs34961050	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35153576	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35307918	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35321631	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35372786	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35439767	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35658331	1.00[EUR][1000 genomes]
rs36017812	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62390671	1.00[EUR][1000 genomes]
rs62390689	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs62392590	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62392636	0.84[EUR][1000 genomes]
rs62392639	0.87[EUR][1000 genomes]
rs6860642	1.00[EUR][1000 genomes]
rs6860732	1.00[EUR][1000 genomes]
rs71587984	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][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	nsv531991	chr5:127624564-127966085	Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv427734	chr5:127805281-128088632	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127914600-127922600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:127917200-127922600	Weak transcription	Hela-S3	cervix

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