Variant report

Variant	rs12227630
Chromosome Location	chr12:66496803-66496804
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10400539	0.85[EUR][1000 genomes]
rs10506478	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10878381	0.84[EUR][1000 genomes]
rs10878382	0.85[EUR][1000 genomes]
rs10878383	0.85[EUR][1000 genomes]
rs10878389	0.81[EUR][1000 genomes]
rs10878391	0.82[EUR][1000 genomes]
rs11176043	0.85[EUR][1000 genomes]
rs11176054	0.85[EUR][1000 genomes]
rs11176056	0.85[EUR][1000 genomes]
rs11176063	0.85[EUR][1000 genomes]
rs11176067	0.81[EUR][1000 genomes]
rs11176068	0.81[EUR][1000 genomes]
rs12832926	0.84[EUR][1000 genomes]
rs17767200	0.84[EUR][1000 genomes]
rs1882201	0.84[EUR][1000 genomes]
rs1898304	0.84[EUR][1000 genomes]
rs1921083	0.85[EUR][1000 genomes]
rs2141709	0.85[EUR][1000 genomes]
rs2178486	0.85[EUR][1000 genomes]
rs2870781	0.85[EUR][1000 genomes]
rs34645929	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34755483	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4474482	0.84[EUR][1000 genomes]
rs4575321	0.83[EUR][1000 genomes]
rs56271210	0.84[EUR][1000 genomes]
rs7295147	0.85[EUR][1000 genomes]
rs7302893	0.84[EUR][1000 genomes]
rs7305938	0.84[EUR][1000 genomes]
rs7979029	0.85[EUR][1000 genomes]
rs7979775	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv899213	chr12:66389968-66500036	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv832446	chr12:66393863-66501484	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1049537	chr12:66403269-66606174	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs12227630	TMBIM4	Cis_1M	lymphoblastoid	RTeQTL
rs12227630	RP11-745O10.2	cis	Skin Sun Exposed Lower leg	GTEx
rs12227630	RP11-745O10.2	cis	Whole Blood	GTEx
rs12227630	RP11-745O10.2	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66496800-66497600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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