Variant report

Variant	rs8129839
Chromosome Location	chr21:17898157-17898158
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs12481827	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12482215	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12482590	1.00[ASN][1000 genomes]
rs12482914	1.00[CHB][hapmap];0.96[ASN][1000 genomes]
rs12483106	0.88[AMR][1000 genomes]
rs12483358	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12483744	1.00[CHB][hapmap];1.00[JPT][hapmap];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	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2404135	1.00[EUR][1000 genomes]
rs2823823	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2823829	1.00[CHB][hapmap]
rs2823840	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823841	1.00[EUR][1000 genomes]
rs2823848	0.83[AMR][1000 genomes]
rs2823850	1.00[EUR][1000 genomes]
rs2823851	1.00[EUR][1000 genomes]
rs2823857	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[MKK][hapmap];0.86[YRI][hapmap];0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823858	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2823859	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2823860	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2823861	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2823864	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs28622187	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34151244	1.00[ASN][1000 genomes]
rs35805038	0.96[ASN][1000 genomes]
rs57039340	1.00[EUR][1000 genomes]
rs58981188	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59527462	0.87[AMR][1000 genomes];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	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73367472	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73367500	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8129300	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8129337	1.00[JPT][hapmap]
rs8132608	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8133774	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8134294	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8134648	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9975878	0.83[ASW][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9977113	0.93[ASN][1000 genomes]
rs9979076	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	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
3	esv3405994	chr21:17895130-17912420	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	292 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17887000-17906000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr21:17889800-17902800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr21:17892200-17898400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr21:17892200-17904000	Weak transcription	Ovary	ovary
5	chr21:17894200-17906200	Weak transcription	Left Ventricle	heart
6	chr21:17894200-17906800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr21:17895000-17904400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr21:17896200-17904400	Weak transcription	Hela-S3	cervix
9	chr21:17896600-17898800	Weak transcription	Brain Substantia Nigra	brain
10	chr21:17897800-17898400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr21:17897800-17904200	Weak transcription	Esophagus	oesophagus

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