Variant report

Variant	rs743426
Chromosome Location	chr21:37905459-37905460
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10854378	0.80[ASN][1000 genomes]
rs11088355	0.87[EUR][1000 genomes]
rs11702057	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12626551	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17814164	0.86[EUR][1000 genomes]
rs2835381	0.94[EUR][1000 genomes]
rs2835385	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2835386	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2835387	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7276044	0.80[ASN][1000 genomes]
rs7279600	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7283212	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8127992	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8134973	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9977315	0.83[ASN][1000 genomes]
rs9981423	0.87[EUR][1000 genomes]
rs9981948	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834090	chr21:37812545-38009542	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1064290	chr21:37878964-37983133	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs743426	DNAJC28	cis	parietal	SCAN
rs743426	KCNJ15	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:37897000-37911600	Weak transcription	Pancreas	Pancrea
2	chr21:37903000-37908000	Weak transcription	Fetal Kidney	kidney
3	chr21:37905200-37905600	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
4	chr21:37905200-37905600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr21:37905200-37905600	Enhancers	NH-A	brain
6	chr21:37905200-37906400	ZNF genes & repeats	GM12878-XiMat	blood
7	chr21:37905400-37905600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr21:37905400-37905600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin

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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

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