Variant report

Variant	rs1822623
Chromosome Location	chr21:28187223-28187224
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs13046223	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13050530	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13051175	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2830547	0.90[AMR][1000 genomes]
rs34542237	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35612760	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35665189	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56213639	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59830135	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60964152	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs66740819	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71317486	1.00[AMR][1000 genomes]
rs7277043	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7278460	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7279842	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
3	nsv834068	chr21:28179670-28360808	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1066328	chr21:28179782-28200710	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28174600-28187800	Weak transcription	Osteobl	bone
2	chr21:28179800-28187800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr21:28182600-28192200	Weak transcription	NHEK	skin
4	chr21:28183600-28187600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr21:28183600-28187600	Weak transcription	NHDF-Ad	bronchial
6	chr21:28183600-28188000	Weak transcription	Brain Hippocampus Middle	brain
7	chr21:28183800-28190200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr21:28185200-28188400	Enhancers	Hela-S3	cervix
9	chr21:28185400-28188000	Enhancers	HSMMtube	muscle
10	chr21:28186200-28188600	Enhancers	HSMM	muscle
11	chr21:28186400-28188200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr21:28186400-28188400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr21:28186600-28187800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr21:28186800-28188200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr21:28186800-28188200	Enhancers	NHLF	lung
16	chr21:28187000-28187400	Enhancers	Placenta	Placenta
17	chr21:28187000-28192400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr21:28187200-28188000	Weak transcription	Ovary	ovary

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dbSNP/dbVar ID: rs12345 /nsv7879
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