Variant report

Variant	rs514201
Chromosome Location	chr1:193872513-193872514
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12726896	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12747764	0.80[EUR][1000 genomes]
rs12756596	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1999102	0.81[EUR][1000 genomes]
rs2182702	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34429079	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34856254	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35443285	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs485666	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs486808	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs487631	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs497749	0.95[ASN][1000 genomes]
rs497769	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs509846	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs564851	0.90[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs592371	0.85[ASN][1000 genomes]
rs608767	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs611732	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs612769	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61831012	0.97[ASN][1000 genomes]
rs61831041	0.88[ASN][1000 genomes]
rs655723	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs657019	0.90[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs675446	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72740921	0.89[ASN][1000 genomes]
rs7535215	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008266	chr1:193550185-194481053	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv3372415	chr1:193612172-193988265	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv548663	chr1:193847597-193901506	Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193872200-193873400	Enhancers	Fetal Heart	heart

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