Variant report

Variant	rs384901
Chromosome Location	chr21:27970165-27970166
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1701371	0.87[EUR][1000 genomes]
rs170493	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1788297	0.82[EUR][1000 genomes]
rs1788298	0.82[EUR][1000 genomes]
rs2156288	0.87[EUR][1000 genomes]
rs222960	1.00[YRI][hapmap]
rs222966	0.86[CHD][hapmap];0.81[JPT][hapmap]
rs222981	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs222982	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs222984	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs222989	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs222990	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs226273	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs226275	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs226276	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs226277	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs226278	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs226279	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs226309	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs226311	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2830279	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs373511	0.87[EUR][1000 genomes]
rs374217	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs375997	0.87[EUR][1000 genomes]
rs381140	0.87[EUR][1000 genomes]
rs383081	0.87[EUR][1000 genomes]
rs383332	0.84[EUR][1000 genomes]
rs399384	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs447493	0.84[EUR][1000 genomes]
rs455908	0.87[EUR][1000 genomes]
rs458512	0.87[EUR][1000 genomes]
rs459144	0.87[EUR][1000 genomes]
rs460100	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs463051	0.87[EUR][1000 genomes]
rs466429	0.87[EUR][1000 genomes]
rs466815	0.87[EUR][1000 genomes]
rs9979657	0.87[EUR][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs384901	USP16	cis	cerebellum	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:27969200-27973200	Enhancers	Dnd41	blood
2	chr21:27969400-27970400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr21:27969600-27971000	Enhancers	NHEK	skin
4	chr21:27970000-27970400	Enhancers	HMEC	breast
5	chr21:27970000-27970800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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