Variant report

Variant	rs12081053
Chromosome Location	chr1:56412081-56412082
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11206685	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11206687	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11206688	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11206689	0.84[CEU][hapmap]
rs4338402	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4341397	0.87[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4345838	0.87[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4927277	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6656718	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6660039	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[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	nsv870513	chr1:56407227-56493106	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv528440	chr1:56412081-56420193	Enhancers ZNF genes & repeats Weak transcription	TF binding region lncRNA	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12081053	YIPF1	cis	parietal	SCAN
rs12081053	ZYG11A	cis	cerebellum	SCAN
rs12081053	C1orf83	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56402000-56416800	Weak transcription	Aorta	Aorta
2	chr1:56404600-56416200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:56410600-56418600	Weak transcription	H1 BMP4 Derived Trophoblast 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