Variant report

Variant	rs58981188
Chromosome Location	chr21:17872708-17872709
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs12481827	1.00[ASN][1000 genomes]
rs12482215	1.00[ASN][1000 genomes]
rs12482590	1.00[ASN][1000 genomes]
rs12482914	0.96[ASN][1000 genomes]
rs12483358	0.81[ASN][1000 genomes]
rs12483744	1.00[ASN][1000 genomes]
rs16998685	1.00[EUR][1000 genomes]
rs16998758	1.00[EUR][1000 genomes]
rs16998890	1.00[EUR][1000 genomes]
rs2032286	1.00[EUR][1000 genomes]
rs2155622	1.00[EUR][1000 genomes]
rs2186870	1.00[EUR][1000 genomes]
rs2212561	0.88[ASN][1000 genomes]
rs2404135	1.00[EUR][1000 genomes]
rs2823840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823841	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2823850	1.00[EUR][1000 genomes]
rs2823851	1.00[EUR][1000 genomes]
rs2823857	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823858	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2823859	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2823860	0.96[ASN][1000 genomes]
rs2823861	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2823864	0.85[ASN][1000 genomes]
rs28622187	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2896759	0.84[AMR][1000 genomes]
rs34151244	1.00[ASN][1000 genomes]
rs35805038	0.96[ASN][1000 genomes]
rs57039340	1.00[EUR][1000 genomes]
rs58611293	0.93[AMR][1000 genomes]
rs59527462	1.00[EUR][1000 genomes]
rs7279732	1.00[EUR][1000 genomes]
rs73363436	1.00[ASN][1000 genomes]
rs73367422	1.00[ASN][1000 genomes]
rs73367434	1.00[EUR][1000 genomes]
rs73367453	1.00[EUR][1000 genomes]
rs73367470	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73367472	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73367500	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8129300	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8129839	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8132608	1.00[ASN][1000 genomes]
rs8133774	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8134294	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8134648	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9975878	0.96[ASN][1000 genomes]
rs9976995	0.81[AMR][1000 genomes]
rs9977113	0.93[ASN][1000 genomes]
rs9979076	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064857	chr21:17628760-18533131	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	345 gene(s)	inside rSNPs	diseases
2	nsv544382	chr21:17628760-18533131	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	345 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17841000-17881800	Weak transcription	Hela-S3	cervix
2	chr21:17860800-17872800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr21:17865000-17875600	Weak transcription	Psoas Muscle	Psoas
4	chr21:17866800-17878200	Weak transcription	Ovary	ovary
5	chr21:17871600-17873200	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr21:17871800-17873200	Enhancers	Brain Substantia Nigra	brain
7	chr21:17872200-17873400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr21:17872600-17873000	Enhancers	Brain Anterior Caudate	brain
9	chr21:17872600-17873000	Enhancers	Brain Hippocampus Middle	brain
10	chr21:17872600-17873000	Enhancers	Fetal Brain Female	brain

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