Variant report

Variant	rs8132208
Chromosome Location	chr21:17826947-17826948
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2823793	0.83[EUR][1000 genomes]
rs2823800	0.83[EUR][1000 genomes]
rs55810916	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56662735	0.83[EUR][1000 genomes]
rs58647744	0.82[EUR][1000 genomes]
rs73179836	0.80[EUR][1000 genomes]
rs73195911	0.83[EUR][1000 genomes]
rs73195917	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8133984	0.83[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	nsv913416	chr21:17728224-17863882	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17809600-17828200	Weak transcription	Left Ventricle	heart
2	chr21:17814600-17828400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr21:17826000-17827400	Enhancers	Colon Smooth Muscle	Colon
4	chr21:17826200-17827200	Enhancers	Liver	Liver
5	chr21:17826200-17827400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr21:17826200-17827600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr21:17826200-17827800	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr21:17826400-17828000	Enhancers	Fetal Brain Male	brain
9	chr21:17826600-17827000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr21:17826600-17827000	Weak transcription	Adipose Nuclei	Adipose
11	chr21:17826600-17827200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr21:17826600-17828200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr21:17826600-17829600	Enhancers	Fetal Heart	heart
14	chr21:17826800-17827000	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr21:17826800-17827000	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr21:17826800-17827200	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr21:17826800-17827600	Enhancers	Brain Germinal Matrix	brain
18	chr21:17826800-17827800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr21:17826800-17828000	Enhancers	Brain Angular Gyrus	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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