Variant report

Variant	rs2830521
Chromosome Location	chr21:28163474-28163475
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2830517	1.00[AMR][1000 genomes]
rs2830526	1.00[AMR][1000 genomes]
rs4380322	0.93[AFR][1000 genomes]
rs59002390	0.84[AFR][1000 genomes]
rs59111775	1.00[AMR][1000 genomes]
rs60359995	0.81[AFR][1000 genomes]
rs73898761	1.00[AMR][1000 genomes]
rs73898778	0.82[AFR][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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28156200-28168200	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr21:28161200-28163600	Enhancers	Fetal Lung	lung
3	chr21:28161400-28167600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr21:28162200-28163600	Enhancers	Placenta Amnion	Placenta Amnion
5	chr21:28162400-28163600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr21:28162400-28163600	Enhancers	Ovary	ovary
7	chr21:28163000-28167800	Weak transcription	Fetal Stomach	stomach
8	chr21:28163400-28167600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr21:28163400-28167600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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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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