Variant report

Variant	rs11046324
Chromosome Location	chr12:22309411-22309412
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1024851	0.86[ASN][1000 genomes]
rs10770895	0.91[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10841952	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10841963	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11046313	0.90[CHB][hapmap];0.83[ASN][1000 genomes]
rs11046315	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11046326	0.91[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs11046327	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11609387	0.83[ASN][1000 genomes]
rs11833134	0.85[ASN][1000 genomes]
rs12372007	0.80[AFR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2080552	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2216297	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4762729	0.83[ASN][1000 genomes]
rs4762730	0.84[ASN][1000 genomes]
rs4762732	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56116819	0.86[ASN][1000 genomes]
rs6487289	0.87[ASN][1000 genomes]
rs7301927	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7301993	0.86[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs759583	0.87[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7963066	0.85[ASN][1000 genomes]
rs7963799	0.84[ASN][1000 genomes]
rs7964713	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7969254	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7976974	0.84[ASN][1000 genomes]
rs8181690	0.89[ASN][1000 genomes]
rs918129	0.82[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs918130	0.87[AFR][1000 genomes];0.93[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	esv2758298	chr12:22140834-22339299	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2759883	chr12:22140834-22736907	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised 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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11046324	PERP	trans	lymphoblastoid	seeQTL
rs11046324	KCNJ8	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:22307800-22313000	Weak transcription	Primary B cells from cord blood	blood
2	chr12:22308000-22313400	Weak transcription	Primary B cells from peripheral blood	blood
3	chr12:22309400-22309800	Enhancers	Primary T cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links