Variant report

Variant	rs9978127
Chromosome Location	chr21:27963236-27963237
allele	A/G
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]
rs13433431	0.96[YRI][hapmap]
rs13433470	0.90[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1543775	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1893573	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2135305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2830275	1.00[ASW][hapmap];0.97[LWK][hapmap];0.93[MKK][hapmap];0.80[YRI][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2830280	0.86[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2830282	1.00[AMR][1000 genomes]
rs2830295	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2830296	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2830298	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2830299	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2830300	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2830301	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28401356	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28404770	0.90[AFR][1000 genomes]
rs28525622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28572488	0.83[AMR][1000 genomes]
rs28624518	0.83[AMR][1000 genomes]
rs28678819	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57821067	1.00[AMR][1000 genomes]
rs7277524	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7283190	0.90[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73351185	1.00[AMR][1000 genomes]
rs73351190	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73353008	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8127446	0.83[AMR][1000 genomes]
rs8128689	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8129932	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8129933	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8130654	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8133538	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs9974221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9975467	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9975732	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs9979121	0.89[AFR][1000 genomes]
rs9979986	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9980194	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9980419	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9984233	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs9989934	0.88[AFR][1000 genomes];1.00[AMR][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	nsv1056506	chr21:27332898-28049880	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv544412	chr21:27332898-28049880	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv544413	chr21:27942060-28065995	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:27961000-27966200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr21:27961000-27966200	Weak transcription	NHEK	skin
3	chr21:27961200-27963800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr21:27962800-27963600	Enhancers	H9 Cell Line	embryonic stem cell

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