Variant report

Variant	rs2212825
Chromosome Location	chr21:28504649-28504650
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1034350	0.84[ASN][1000 genomes]
rs1571662	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2226782	0.81[ASN][1000 genomes]
rs2830712	0.88[ASN][1000 genomes]
rs4471973	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs448721	0.88[AFR][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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28501600-28508000	Enhancers	Fetal Lung	lung
2	chr21:28502800-28504800	Weak transcription	Adipose Nuclei	Adipose
3	chr21:28504000-28505400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr21:28504400-28505000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr21:28504400-28505000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr21:28504400-28505000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr21:28504400-28505000	Enhancers	Ovary	ovary
8	chr21:28504400-28505200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr21:28504400-28505200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr21:28504400-28505200	Enhancers	HSMM	muscle
11	chr21:28504400-28505200	Enhancers	NHDF-Ad	bronchial
12	chr21:28504400-28505200	Enhancers	Osteobl	bone
13	chr21:28504400-28505600	Enhancers	Placenta	Placenta
14	chr21:28504600-28504800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr21:28504600-28505000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr21:28504600-28505000	Enhancers	HSMMtube	muscle
17	chr21:28504600-28505600	Enhancers	Breast Myoepithelial Primary Cells	Breast

Quick Search:

Input of quick search could be:

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

what's new

Quick links