Variant report

Variant	rs1449328
Chromosome Location	chr3:54409678-54409679
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs13327625	0.87[EUR][1000 genomes]
rs1449327	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1449329	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1449330	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1473345	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1473346	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1473347	0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1868497	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1868502	0.96[ASN][1000 genomes]
rs1868506	0.95[EUR][1000 genomes]
rs1868507	0.95[EUR][1000 genomes]
rs1868508	0.87[EUR][1000 genomes]
rs1975611	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1992963	0.88[ASN][1000 genomes]
rs2359790	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2359792	0.88[EUR][1000 genomes]
rs2359793	0.89[EUR][1000 genomes]
rs4025912	0.87[EUR][1000 genomes]
rs731507	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7372444	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7372695	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9311528	0.96[ASN][1000 genomes]
rs9827201	0.87[EUR][1000 genomes]
rs9830682	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9836159	0.99[ASN][1000 genomes]
rs9841318	1.00[ASN][1000 genomes]
rs9841979	0.96[ASN][1000 genomes]
rs9855860	0.86[ASN][1000 genomes]
rs9861155	0.86[ASN][1000 genomes]
rs9862712	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9862718	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9870407	0.96[ASN][1000 genomes]
rs9877455	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003621	chr3:53448934-54425322	Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1014595	chr3:53944473-54846754	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv817210	chr3:54365684-54511164	Enhancers Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv428084	chr3:54404258-54742756	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:54392600-54410200	Weak transcription	Ovary	ovary
2	chr3:54406400-54410200	Weak transcription	Psoas Muscle	Psoas
3	chr3:54407800-54411200	Enhancers	Hela-S3	cervix
4	chr3:54409000-54411400	Enhancers	Right Atrium	heart
5	chr3:54409600-54410400	Enhancers	Right Ventricle	heart
6	chr3:54409600-54411800	Enhancers	Fetal Lung	lung

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