Variant report

Variant	rs58223210
Chromosome Location	chr1:47391801-47391802
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11801198	1.00[EUR][1000 genomes]
rs11803288	0.90[AMR][1000 genomes]
rs12036374	1.00[EUR][1000 genomes]
rs12064597	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12068907	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12075287	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12082613	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17102905	1.00[AMR][1000 genomes]
rs45464595	1.00[EUR][1000 genomes]
rs45584834	0.90[AMR][1000 genomes]
rs4646476	1.00[EUR][1000 genomes]
rs4646477	1.00[EUR][1000 genomes]
rs4646488	1.00[EUR][1000 genomes]
rs4646494	1.00[EUR][1000 genomes]
rs4646496	1.00[EUR][1000 genomes]
rs56839286	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57007364	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs57190303	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs57200251	1.00[EUR][1000 genomes]
rs57282306	0.90[AMR][1000 genomes]
rs57557506	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57627915	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58307605	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs58422947	1.00[AMR][1000 genomes]
rs58688699	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs58826184	1.00[EUR][1000 genomes]
rs58929824	1.00[EUR][1000 genomes]
rs59402146	0.90[AMR][1000 genomes]
rs59465754	0.94[ASN][1000 genomes]
rs59903483	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs60189155	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60952216	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61449393	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7526965	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7556308	1.00[AMR][1000 genomes]
rs9333003	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9333007	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9333032	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9333037	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871958	chr1:47350374-47517123	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1009338	chr1:47358532-47555253	Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv2763300	chr1:47358532-47628774	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv870695	chr1:47363893-47502714	Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv871288	chr1:47363893-47507808	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv871377	chr1:47363893-47517123	Bivalent Enhancer ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr1:47391400-47393000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:47391600-47393800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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