Variant report

Variant	rs13047943
Chromosome Location	chr21:28183075-28183076
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs2067899	0.89[EUR][1000 genomes]
rs2830533	0.80[EUR][1000 genomes]
rs2830534	0.80[EUR][1000 genomes]
rs2830537	0.80[EUR][1000 genomes]
rs2830545	0.89[EUR][1000 genomes]
rs2830546	0.89[EUR][1000 genomes]
rs2830549	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs57052686	0.85[EUR][1000 genomes]
rs59042813	0.85[EUR][1000 genomes]
rs59820829	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60099514	0.87[EUR][1000 genomes]
rs8127836	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs872265	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28174000-28185400	Weak transcription	HSMMtube	muscle
2	chr21:28174600-28187800	Weak transcription	Osteobl	bone
3	chr21:28177800-28186800	Weak transcription	NHLF	lung
4	chr21:28178200-28185800	Weak transcription	Ovary	ovary
5	chr21:28179200-28183200	Weak transcription	NHDF-Ad	bronchial
6	chr21:28179400-28183400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr21:28179800-28183200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr21:28179800-28187800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr21:28182600-28192200	Weak transcription	NHEK	skin
10	chr21:28183000-28183800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr21:28183000-28183800	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr21:28183000-28183800	Enhancers	Fetal Stomach	stomach
13	chr21:28183000-28184400	Enhancers	Hela-S3	cervix
14	chr21:28183000-28185600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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