Variant report

Variant	rs2354228
Chromosome Location	chr19:40123941-40123942
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10406803	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10418390	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10423087	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10775536	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11083526	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11083527	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1156815	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1156816	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11666212	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11669894	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11673427	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12608711	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12609214	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1985763	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1985764	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2011727	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2079510	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2108390	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2214978	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2354229	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2883386	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3842958	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4286215	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4352162	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4361050	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4461191	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4474814	0.83[EUR][1000 genomes]
rs4577215	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4638715	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4802052	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4803275	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4803281	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4803282	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6508880	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6508881	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6508882	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6508893	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6508897	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs717348	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7247678	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7251220	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8101132	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8104520	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8104655	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8105238	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8109704	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8110098	0.83[ASN][1000 genomes]
rs886843	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][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	nsv579509	chr19:40004640-40133438	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	esv34120	chr19:40044635-40131820	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1062653	chr19:40123868-40163241	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1057361	chr19:40123868-40310996	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40122000-40127600	Weak transcription	Placenta	Placenta

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