Variant report

Variant	rs12482590
Chromosome Location	chr21:17889943-17889944
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs12481827	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12482165	1.00[AMR][1000 genomes]
rs12482215	1.00[ASN][1000 genomes]
rs12482914	0.96[ASN][1000 genomes]
rs12483358	0.81[ASN][1000 genomes]
rs12483744	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2212561	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2823840	1.00[ASN][1000 genomes]
rs2823857	1.00[ASN][1000 genomes]
rs2823858	0.96[ASN][1000 genomes]
rs2823859	0.96[ASN][1000 genomes]
rs2823860	0.96[ASN][1000 genomes]
rs2823861	0.96[ASN][1000 genomes]
rs2823864	0.85[ASN][1000 genomes]
rs28622187	1.00[ASN][1000 genomes]
rs34151244	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35805038	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs58981188	1.00[ASN][1000 genomes]
rs73363436	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73367422	1.00[ASN][1000 genomes]
rs73367470	1.00[ASN][1000 genomes]
rs73367472	1.00[ASN][1000 genomes]
rs73367500	0.96[ASN][1000 genomes]
rs8129300	0.96[ASN][1000 genomes]
rs8129839	1.00[ASN][1000 genomes]
rs8132608	1.00[ASN][1000 genomes]
rs8133774	1.00[ASN][1000 genomes]
rs8134294	1.00[ASN][1000 genomes]
rs8134648	0.96[ASN][1000 genomes]
rs9975878	0.96[ASN][1000 genomes]
rs9977113	0.93[ASN][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:14 , 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	chr21:17882800-17890000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr21:17885600-17891200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr21:17887000-17906000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr21:17887600-17894600	Weak transcription	NH-A	brain
7	chr21:17888600-17892400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr21:17889400-17890000	Enhancers	HSMM	muscle
9	chr21:17889400-17890200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr21:17889600-17890400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr21:17889600-17891400	Weak transcription	Ovary	ovary
12	chr21:17889800-17890200	Enhancers	A549	lung
13	chr21:17889800-17894200	Weak transcription	Osteobl	bone
14	chr21:17889800-17902800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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