Variant report

Variant	rs28622187
Chromosome Location	chr21:17890975-17890976
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

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]
rs12483106	0.88[AMR][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[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	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823858	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2823859	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2823860	0.96[ASN][1000 genomes]
rs2823861	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2823864	0.85[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	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73367472	0.83[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	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8129839	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8132608	1.00[ASN][1000 genomes]
rs8133774	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8134294	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8134648	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9975878	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9977113	0.93[ASN][1000 genomes]
rs9979076	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17879000-17891400	Weak transcription	Fetal Brain Male	brain
2	chr21:17882600-17894600	Weak transcription	Hela-S3	cervix
3	chr21:17885600-17891200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr21:17887000-17906000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr21:17887600-17894600	Weak transcription	NH-A	brain
6	chr21:17888600-17892400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr21:17889600-17891400	Weak transcription	Ovary	ovary
8	chr21:17889800-17894200	Weak transcription	Osteobl	bone
9	chr21:17889800-17902800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr21:17890200-17894600	Weak transcription	A549	lung
11	chr21:17890400-17894400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links