Variant report

Variant	rs2830497
Chromosome Location	chr21:28154208-28154209
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2212808	0.81[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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28149600-28154800	Weak transcription	HSMMtube	muscle
2	chr21:28153400-28154400	Enhancers	Aorta	Aorta
3	chr21:28153400-28155400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr21:28153800-28155200	Enhancers	Adipose Nuclei	Adipose
5	chr21:28154000-28155000	Enhancers	Stomach Smooth Muscle	stomach
6	chr21:28154000-28155200	Enhancers	Colon Smooth Muscle	Colon
7	chr21:28154000-28155200	Weak transcription	Ovary	ovary
8	chr21:28154000-28156000	Enhancers	Fetal Muscle Leg	muscle
9	chr21:28154000-28156000	Enhancers	Fetal Stomach	stomach
10	chr21:28154000-28156200	Enhancers	Rectal Smooth Muscle	rectum
11	chr21:28154000-28156200	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr21:28154000-28157000	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr21:28154200-28154400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr21:28154200-28157400	Weak transcription	Psoas Muscle	Psoas
15	chr21:28154200-28161200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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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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