Variant report

Variant	rs12166129
Chromosome Location	chr22:28999668-28999669
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:28996007..28999960-chr22:29194026..29197947,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000226471	Chromatin interaction
ENSG00000100219	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10483151	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12165708	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12166363	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12167667	0.97[EUR][1000 genomes]
rs12169595	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12169966	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1474961	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16986509	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17413461	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55738739	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57871917	0.81[AMR][1000 genomes]
rs59262169	0.91[EUR][1000 genomes]
rs60042154	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6005807	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6519753	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7291268	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73430123	0.91[EUR][1000 genomes]
rs73430136	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73430155	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73430186	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73439811	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs738200	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs738627	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8137200	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8137808	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9306457	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9620797	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9620799	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9620803	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9620804	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9620809	0.97[EUR][1000 genomes]
rs9625467	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625475	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9625477	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625478	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9625481	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625484	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9625487	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9625492	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9625501	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9625508	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9625510	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9625515	0.95[EUR][1000 genomes]
rs9625516	0.97[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	nsv1067544	chr22:28755418-29055246	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
2	nsv544674	chr22:28755418-29055246	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv588880	chr22:28807277-29001789	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
4	nsv916473	chr22:28837041-29215603	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv459867	chr22:28993183-29109036	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv588881	chr22:28993183-29109036	Weak transcription Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv3408790	chr22:28999302-29001500	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28991400-29000800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:28991400-29001000	Weak transcription	Fetal Lung	lung
3	chr22:28991400-29003600	Weak transcription	NHLF	lung
4	chr22:28991400-29004200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr22:28991800-29007600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr22:28996200-29002800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr22:28997000-29000600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr22:28998200-29004000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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