Variant report

Variant	rs4344559
Chromosome Location	chr12:48349499-48349500
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11168332	0.90[ASN][1000 genomes]
rs12426835	0.81[AMR][1000 genomes]
rs2071356	0.84[AMR][1000 genomes]
rs2898045	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4237856	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4307775	0.84[AMR][1000 genomes]
rs4366552	1.00[ASW][hapmap];0.89[CEU][hapmap];0.93[MEX][hapmap];0.82[TSI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4417373	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4494361	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4760606	0.82[ASN][1000 genomes]
rs57624904	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs740025	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832401	chr12:48347453-48477999	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4344559	DNAJC22	cis	cerebellum	SCAN
rs4344559	VDR	cis	parietal	SCAN
rs4344559	RACGAP1P	cis	parietal	SCAN
rs4344559	TMEM106C	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48347600-48349600	Enhancers	Fetal Lung	lung
2	chr12:48348200-48351400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:48348800-48351200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:48349200-48351200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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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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