Variant report

Variant	rs1571698
Chromosome Location	chr21:37981988-37981989
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1023150	0.97[ASN][1000 genomes]
rs1023368	0.95[ASN][1000 genomes]
rs11088359	0.89[ASN][1000 genomes]
rs13047867	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1888463	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2734398	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2734399	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2835396	0.82[ASN][1000 genomes]
rs2835403	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2845771	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs367166	0.95[CHB][hapmap];0.88[JPT][hapmap]
rs380723	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs397996	0.95[CHB][hapmap];0.88[JPT][hapmap]
rs398591	0.94[CHB][hapmap];0.87[JPT][hapmap]
rs399711	0.95[CHB][hapmap];0.88[JPT][hapmap]
rs400019	0.95[CHB][hapmap];0.88[JPT][hapmap]
rs400267	0.90[CHB][hapmap];0.88[JPT][hapmap]
rs400544	0.95[CHB][hapmap];0.88[JPT][hapmap]
rs412775	0.95[CHB][hapmap];0.88[JPT][hapmap]
rs413616	0.95[CHB][hapmap];0.88[JPT][hapmap]
rs420925	0.95[CHB][hapmap];0.88[JPT][hapmap]
rs425864	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs431530	0.95[CHB][hapmap];0.88[JPT][hapmap]
rs439888	0.94[CHB][hapmap];0.87[JPT][hapmap]
rs443367	0.81[ASN][1000 genomes]
rs443968	0.94[CHB][hapmap];0.88[JPT][hapmap]
rs445103	0.95[CHB][hapmap];0.88[JPT][hapmap]
rs448332	0.90[CHB][hapmap];0.88[JPT][hapmap]
rs448482	0.95[CHB][hapmap];0.88[JPT][hapmap]
rs448659	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs448687	0.90[CHB][hapmap];0.88[JPT][hapmap]
rs448849	0.95[CHB][hapmap];0.88[JPT][hapmap]
rs451243	0.95[CHB][hapmap];0.88[JPT][hapmap]
rs4816543	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs914147	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9753924	0.82[ASN][1000 genomes]
rs9808728	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9977224	0.84[AMR][1000 genomes]
rs9977245	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9978422	0.82[ASN][1000 genomes]
rs9983027	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[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	nsv834090	chr21:37812545-38009542	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1064290	chr21:37878964-37983133	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2762111	chr21:37967924-38023546	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:37979600-37999400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr21:37981200-37982600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr21:37981400-37982000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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