Variant report

Variant	rs10748036
Chromosome Location	chr12:66472284-66472285
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:66470991..66472905-chr12:66474513..66476422,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10784515	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10784516	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11176031	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1168771	0.81[CEU][hapmap]
rs12298245	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12301212	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12422789	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12423372	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs12426813	0.85[ASN][1000 genomes]
rs12578754	0.83[ASN][1000 genomes]
rs12825992	0.81[CHB][hapmap];0.80[JPT][hapmap]
rs12827665	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2870786	0.81[JPT][hapmap]
rs35085853	0.87[ASN][1000 genomes]
rs56788341	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7135814	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7294608	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73315943	0.85[ASN][1000 genomes]
rs7397481	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7954873	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7961011	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs10748036	TMBIM4	cis	parietal	SCAN
rs10748036	TMBIM4	cis	cerebellum	SCAN
rs10748036	TMBIM4	Cis_1M	lymphoblastoid	RTeQTL
rs10748036	MDM1	cis	parietal	SCAN
rs10748036	XPOT	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66468800-66486000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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