Variant report

Variant	rs2830716
Chromosome Location	chr21:28504423-28504424
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1236213	0.83[ASN][1000 genomes]
rs1236214	0.86[ASN][1000 genomes]
rs1236215	0.85[ASN][1000 genomes]
rs1236216	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1236217	0.89[ASN][1000 genomes]
rs13052896	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2830684	0.86[ASN][1000 genomes]
rs2830689	0.86[ASN][1000 genomes]
rs2830698	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2830715	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34618216	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][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	esv2758532	chr21:28380230-28540443	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
3	esv2758817	chr21:28380230-28540443	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
4	nsv1062808	chr21:28443252-28537209	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
5	nsv544414	chr21:28443252-28537209	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28501600-28508000	Enhancers	Fetal Lung	lung
2	chr21:28502200-28504600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr21:28502200-28504600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr21:28502800-28504800	Weak transcription	Adipose Nuclei	Adipose
5	chr21:28504000-28505400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr21:28504400-28505000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr21:28504400-28505000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr21:28504400-28505000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr21:28504400-28505000	Enhancers	Ovary	ovary
10	chr21:28504400-28505200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr21:28504400-28505200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr21:28504400-28505200	Enhancers	HSMM	muscle
13	chr21:28504400-28505200	Enhancers	NHDF-Ad	bronchial
14	chr21:28504400-28505200	Enhancers	Osteobl	bone
15	chr21:28504400-28505600	Enhancers	Placenta	Placenta

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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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