Variant report

Variant	rs2212808
Chromosome Location	chr21:28157026-28157027
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12483502	0.94[ASN][1000 genomes]
rs2830497	0.81[AFR][1000 genomes]
rs2830505	0.85[EUR][1000 genomes]
rs2830511	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9647121	0.82[EUR][1000 genomes];1.00[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	nsv1066573	chr21:28096356-28374354	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1057400	chr21:28104936-28359948	Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28154200-28157400	Weak transcription	Psoas Muscle	Psoas
2	chr21:28154200-28161200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr21:28155000-28160800	Weak transcription	Aorta	Aorta
4	chr21:28155200-28158000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr21:28155200-28161200	Weak transcription	Adipose Nuclei	Adipose
6	chr21:28156000-28161200	Weak transcription	Fetal Stomach	stomach
7	chr21:28156200-28157400	Weak transcription	Colon Smooth Muscle	Colon
8	chr21:28156200-28157400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr21:28156200-28158200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr21:28156200-28168200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr21:28156400-28161200	Weak transcription	Fetal Lung	lung
12	chr21:28156600-28158400	Enhancers	Ovary	ovary

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

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