Variant report

Variant	rs10506475
Chromosome Location	chr12:66498118-66498119
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10459263	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10506479	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.85[TSI][hapmap];0.85[YRI][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10878379	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10878380	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10878384	1.00[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10878387	0.82[YRI][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10878388	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11176040	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11176041	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11176042	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11176044	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11176046	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11176047	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11176048	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11176050	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11176051	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11176058	1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11176059	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11176061	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11176062	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1168744	0.80[CEU][hapmap];0.83[CHD][hapmap];0.93[GIH][hapmap]
rs1168757	0.93[GIH][hapmap]
rs1168758	0.80[CEU][hapmap];0.96[GIH][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]
rs1168772	0.80[CEU][hapmap];0.96[GIH][hapmap];0.92[TSI][hapmap];0.81[EUR][1000 genomes]
rs1179914	0.89[CEU][hapmap];0.82[JPT][hapmap]
rs12230221	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12230240	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12230800	1.00[CEU][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12306484	0.89[CEU][hapmap];0.93[GIH][hapmap];0.83[JPT][hapmap]
rs12423372	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs12426813	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12578364	0.93[EUR][1000 genomes]
rs12578752	0.85[CEU][hapmap];0.93[EUR][1000 genomes]
rs12578754	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12578801	1.00[CEU][hapmap];0.82[CHB][hapmap];0.83[CHD][hapmap];0.89[GIH][hapmap];0.83[JPT][hapmap];1.00[TSI][hapmap]
rs12578994	0.89[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap];0.93[EUR][1000 genomes]
rs12581033	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12581836	0.89[CEU][hapmap];0.81[CHB][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12582384	1.00[CEU][hapmap];0.81[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12814331	0.93[EUR][1000 genomes]
rs12814606	1.00[CEU][hapmap];0.83[JPT][hapmap];0.85[YRI][hapmap];0.93[EUR][1000 genomes]
rs12821415	0.85[EUR][1000 genomes]
rs12822410	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12823414	0.85[EUR][1000 genomes]
rs12823732	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12825992	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1370129	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1625441	0.89[CEU][hapmap];0.93[GIH][hapmap]
rs17245364	1.00[CEU][hapmap];0.81[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.93[EUR][1000 genomes]
rs1732893	0.89[CEU][hapmap];0.96[GIH][hapmap]
rs17825943	0.95[EUR][1000 genomes]
rs1921080	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1921082	0.89[CEU][hapmap];0.81[CHD][hapmap];0.96[GIH][hapmap];0.83[JPT][hapmap]
rs2701653	0.93[GIH][hapmap]
rs2870786	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2904498	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34406211	0.95[EUR][1000 genomes]
rs34552143	0.93[EUR][1000 genomes]
rs35085853	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35131575	0.95[EUR][1000 genomes]
rs35187440	0.93[EUR][1000 genomes]
rs35447479	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35971570	0.93[EUR][1000 genomes]
rs36073795	0.93[EUR][1000 genomes]
rs4281516	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59112451	0.95[EUR][1000 genomes]
rs60102429	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs66767092	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs71450848	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73315943	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs737614	1.00[CEU][hapmap];0.82[CHB][hapmap];0.83[JPT][hapmap];0.93[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10506475	TMBIM4	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66497200-66500800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:66497600-66498600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:66497600-66500800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr12:66497800-66500800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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