Variant report

Variant	rs58612171
Chromosome Location	chr1:45715853-45715854
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:45478837..45482888-chr1:45715083..45718053,3	K562	blood:
2	chr1:45713616..45716854-chr1:45720214..45722890,3	K562	blood:

Variant related genes	Relation type
ENSG00000126088	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs17394390	0.84[EUR][1000 genomes]
rs1938299	0.92[EUR][1000 genomes]
rs2096435	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4660298	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4660299	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4660840	0.84[EUR][1000 genomes]
rs57145153	0.91[AFR][1000 genomes]
rs61410565	0.91[AFR][1000 genomes]
rs61789775	0.84[EUR][1000 genomes]
rs61789777	0.84[EUR][1000 genomes]
rs61789778	0.84[EUR][1000 genomes]
rs61789782	0.81[EUR][1000 genomes]
rs61789785	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61789788	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61789789	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61789808	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61789809	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61789814	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61789816	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61789817	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61789818	0.99[EUR][1000 genomes]
rs61789819	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61789820	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61789821	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61789822	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61789826	0.99[EUR][1000 genomes]
rs61789830	0.92[EUR][1000 genomes]
rs74072216	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
2	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
3	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
4	nsv998187	chr1:45677251-45732377	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1014509	chr1:45687523-45887501	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 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	chr1:45713000-45718600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:45713000-45720200	Weak transcription	HepG2	liver
3	chr1:45713600-45723800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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