Variant report

Variant	rs7277283
Chromosome Location	chr21:28789412-28789413
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs16980667	1.00[EUR][1000 genomes]
rs242330	1.00[EUR][1000 genomes]
rs58737019	1.00[EUR][1000 genomes]
rs58845853	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59049471	1.00[EUR][1000 genomes]
rs60404616	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60998624	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8127841	1.00[EUR][1000 genomes]
rs9653652	1.00[EUR][1000 genomes]
rs980786	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067475	chr21:28238746-29046707	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv459229	chr21:28543456-29482488	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv587342	chr21:28543456-29482488	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv913666	chr21:28687650-28810976	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv916307	chr21:28762455-28905095	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28785600-28793000	Weak transcription	Pancreas	Pancrea
2	chr21:28786200-28795400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr21:28789200-28792000	Enhancers	Fetal Lung	lung
4	chr21:28789200-28798000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr21:28789400-28794600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr21:28789400-28795400	Weak transcription	Gastric	stomach
7	chr21:28789400-28798000	Weak transcription	Spleen	Spleen
8	chr21:28789400-28802000	Weak transcription	Left Ventricle	heart

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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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