Variant report

Variant	rs11112585
Chromosome Location	chr12:105933442-105933443
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10507192	0.89[ASN][1000 genomes]
rs10507194	0.88[ASN][1000 genomes]
rs10778413	0.88[ASN][1000 genomes]
rs10778414	0.88[ASN][1000 genomes]
rs11112586	0.96[ASN][1000 genomes]
rs11112587	0.92[ASN][1000 genomes]
rs11112588	0.90[ASN][1000 genomes]
rs11112589	0.90[ASN][1000 genomes]
rs11112590	0.90[ASN][1000 genomes]
rs11112591	0.90[ASN][1000 genomes]
rs11112592	0.90[ASN][1000 genomes]
rs12296355	0.92[ASN][1000 genomes]
rs12305225	0.88[ASN][1000 genomes]
rs12307351	0.91[ASN][1000 genomes]
rs12316204	0.90[ASN][1000 genomes]
rs12321309	0.93[ASN][1000 genomes]
rs12371537	0.87[ASN][1000 genomes]
rs12580741	0.94[ASN][1000 genomes]
rs17037308	0.91[ASN][1000 genomes]
rs17037312	0.91[ASN][1000 genomes]
rs17037317	0.90[ASN][1000 genomes]
rs17041546	0.91[ASN][1000 genomes]
rs2374502	0.93[ASN][1000 genomes]
rs4015312	0.93[ASN][1000 genomes]
rs55646142	0.91[ASN][1000 genomes]
rs58066965	0.90[ASN][1000 genomes]
rs59504344	0.93[ASN][1000 genomes]
rs60865625	0.90[ASN][1000 genomes]
rs61200462	0.88[ASN][1000 genomes]
rs61645733	0.94[ASN][1000 genomes]
rs6539218	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66754070	0.86[ASN][1000 genomes]
rs68053161	0.91[ASN][1000 genomes]
rs7299470	0.88[ASN][1000 genomes]
rs73184077	0.91[ASN][1000 genomes]
rs73184078	0.91[ASN][1000 genomes]
rs73184081	0.87[ASN][1000 genomes]
rs73184083	0.90[ASN][1000 genomes]
rs73184084	0.90[ASN][1000 genomes]
rs7956435	0.86[ASN][1000 genomes]
rs7959699	0.88[ASN][1000 genomes]
rs7969390	0.84[ASN][1000 genomes]
rs7969416	0.84[ASN][1000 genomes]
rs7969421	0.83[ASN][1000 genomes]
rs7969556	0.85[ASN][1000 genomes]
rs871219	0.96[ASN][1000 genomes]
rs871220	0.93[ASN][1000 genomes]
rs941101	0.81[AMR][1000 genomes];0.96[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	nsv899501	chr12:105819046-105950801	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv832507	chr12:105821685-106005186	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11112585	PAH	cis	parietal	SCAN
rs11112585	ALDH1L2	cis	cerebellum	SCAN
rs11112585	ASCL1	cis	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105932000-105934000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr12:105932000-105934000	Enhancers	Fetal Muscle Leg	muscle
3	chr12:105932200-105934000	Enhancers	HSMM	muscle
4	chr12:105932200-105934000	Enhancers	HSMMtube	muscle
5	chr12:105932400-105933800	Enhancers	Fetal Muscle Trunk	muscle
6	chr12:105932400-105934000	Enhancers	Colon Smooth Muscle	Colon
7	chr12:105932400-105934000	Enhancers	Stomach Smooth Muscle	stomach
8	chr12:105932400-105934200	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr12:105932400-105934200	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr12:105932800-105934000	Enhancers	Fetal Stomach	stomach
11	chr12:105932800-105935800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:105932800-105937000	Strong transcription	HUVEC	blood vessel
13	chr12:105933400-105934000	Enhancers	Psoas Muscle	Psoas

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