Variant report

Variant	rs12672953
Chromosome Location	chr7:150539695-150539696
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:150535262..150537898-chr7:150538859..150541652,2	K562	blood:
2	chr7:150520537..150523208-chr7:150537705..150539959,2	K562	blood:
3	chr7:150539254..150541517-chr7:150546331..150548334,2	K562	blood:

Variant related genes	Relation type
ENSG00000002726	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1005389	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1005390	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10269643	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10452847	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12703104	0.91[EUR][1000 genomes]
rs4725366	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4725372	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4725949	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4725955	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4725956	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4725958	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4725960	0.91[EUR][1000 genomes]
rs6950447	0.91[EUR][1000 genomes]
rs6951585	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73165541	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7786420	0.86[ASN][1000 genomes]
rs7788808	0.91[EUR][1000 genomes]
rs7789908	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7793572	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs917806	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs917807	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs917808	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv967475	chr7:150323577-150610034	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	esv2758140	chr7:150538821-150663697	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	esv2759574	chr7:150538821-150663697	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150522400-150542800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:150538400-150542200	Weak transcription	Fetal Intestine Large	intestine
3	chr7:150539000-150540000	Bivalent Enhancer	Placenta	Placenta
4	chr7:150539600-150553800	Weak transcription	Liver	Liver

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