Variant report

Variant	rs12630019
Chromosome Location	chr3:138968816-138968817
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	chr3:138968454..138970679-chr3:138975620..138978024,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11719376	0.84[ASN][1000 genomes]
rs12629284	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12629323	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12630565	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12631107	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12632544	1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12633011	0.80[ASN][1000 genomes]
rs12635153	0.86[ASN][1000 genomes]
rs12637124	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12637297	0.97[ASN][1000 genomes]
rs12637329	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12637397	1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12637601	1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12638754	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12639039	0.86[ASN][1000 genomes]
rs12639299	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12639501	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3924104	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3924105	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56947740	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs56970184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57178067	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57625996	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58210016	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58316570	0.86[ASN][1000 genomes]
rs58710050	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59021503	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59401145	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59690210	0.85[ASN][1000 genomes]
rs60267869	1.00[EUR][1000 genomes]
rs61182055	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61262534	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61379731	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73868516	0.86[ASN][1000 genomes]
rs73868517	0.86[ASN][1000 genomes]
rs73868523	0.86[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	nsv1005167	chr3:138854490-138988546	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv536728	chr3:138854490-138988546	Enhancers Bivalent Enhancer Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	1 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	chr3:138968000-138971600	Weak transcription	K562	blood
2	chr3:138968400-138969200	Weak transcription	Ovary	ovary

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