Variant report

Variant	rs12047230
Chromosome Location	chr1:159479005-159479006
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11265196	0.86[ASN][1000 genomes]
rs11265204	0.89[CHB][hapmap];0.90[CHD][hapmap];0.86[GIH][hapmap];0.84[JPT][hapmap];0.83[MEX][hapmap];0.89[ASN][1000 genomes]
rs11265205	0.93[ASN][1000 genomes]
rs11811256	0.96[ASN][1000 genomes]
rs12023055	0.89[ASN][1000 genomes]
rs12034243	0.84[CHB][hapmap];0.89[ASN][1000 genomes]
rs12133577	0.94[CHB][hapmap];0.89[ASN][1000 genomes]
rs12734524	0.93[ASN][1000 genomes]
rs1584252	0.85[CEU][hapmap];0.92[GIH][hapmap];0.91[TSI][hapmap]
rs28629949	0.88[ASN][1000 genomes]
rs34388918	0.85[ASN][1000 genomes]
rs4261112	0.85[ASN][1000 genomes]
rs61821535	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7521220	0.93[ASN][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	nsv1005195	chr1:159452759-159910337	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs12047230	APCS	cis	cerebellum	SCAN
rs12047230	ARHGEF11	cis	cerebellum	SCAN
rs12047230	SLC39A1	cis	cerebellum	SCAN
rs12047230	DARC	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:159478200-159480200	Flanking Active TSS	Liver	Liver
2	chr1:159478800-159479800	Enhancers	Duodenum Mucosa	Duodenum
3	chr1:159478800-159480400	Enhancers	Fetal Intestine Small	intestine
4	chr1:159478800-159481400	Enhancers	Fetal Intestine Large	intestine

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