Variant report

Variant	rs1168739
Chromosome Location	chr12:66568351-66568352
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PAX5	chr12:66568173-66568583	GM12878	blood:	n/a	n/a
2	PAX5	chr12:66568180-66568658	GM12878	blood:	n/a	n/a
3	SETDB1	chr12:66568181-66568785	U2OS	brain:	n/a	n/a
4	PAX5	chr12:66568151-66568577	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
TMBIM4	TF binding region
ENSG00000228144	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1168736	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1168744	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1168757	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1168758	0.82[ASN][1000 genomes]
rs1168772	0.83[ASN][1000 genomes]
rs1179914	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1185253	0.92[EUR][1000 genomes]
rs12306484	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12578364	0.98[ASN][1000 genomes]
rs12578752	0.99[ASN][1000 genomes]
rs12578801	0.95[ASN][1000 genomes]
rs12578994	0.99[ASN][1000 genomes]
rs12814331	0.99[ASN][1000 genomes]
rs12814606	0.99[ASN][1000 genomes]
rs12823414	0.83[ASN][1000 genomes]
rs1625441	0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17245364	0.99[ASN][1000 genomes]
rs1732893	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17825931	0.89[ASN][1000 genomes]
rs17825943	0.93[ASN][1000 genomes]
rs1797410	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1921082	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2576183	0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2701644	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2701645	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2701653	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2701654	0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2701655	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2917598	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34406211	0.90[ASN][1000 genomes]
rs34552143	0.93[ASN][1000 genomes]
rs35131575	0.93[ASN][1000 genomes]
rs35187440	0.99[ASN][1000 genomes]
rs35971570	0.99[ASN][1000 genomes]
rs36073795	0.99[ASN][1000 genomes]
rs57825508	0.81[EUR][1000 genomes]
rs59112451	0.93[ASN][1000 genomes]
rs737614	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
4	nsv541516	chr12:66547969-66596036	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv899215	chr12:66556960-66594134	Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	n/a
6	nsv899216	chr12:66563835-66716844	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1168739	TMBIM4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66564400-66569200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:66564400-66570000	Weak transcription	Adipose Nuclei	Adipose
3	chr12:66566800-66568600	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr12:66567200-66568400	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr12:66567600-66569600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:66568000-66570000	Weak transcription	Primary monocytes fromperipheralblood	blood

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