Variant report

Variant	rs12169232
Chromosome Location	chr22:29033189-29033190
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	chr22:29032998..29035850-chr22:29036079..29038084,2	MCF-7	breast:
2	chr22:29032416..29034687-chr22:29214164..29215890,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000226471	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10084639	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10222318	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12165715	0.93[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs12165893	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12165913	0.82[AFR][1000 genomes]
rs12166245	0.91[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs12166475	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs12167122	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12167434	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12167532	0.85[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12167614	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12168031	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12168765	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12169071	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12169120	0.90[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs12169460	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12169880	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12171099	0.86[AFR][1000 genomes]
rs134524	0.81[EUR][1000 genomes]
rs134547	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs16986398	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2013784	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2144922	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2881496	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs28818228	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58049055	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58542867	0.91[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs6005809	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs60065194	0.91[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs60248971	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs60693420	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6519758	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7288792	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7289534	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7289625	0.87[EUR][1000 genomes]
rs7293232	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73430118	0.91[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs73430168	0.88[EUR][1000 genomes]
rs73430179	0.91[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs73430189	0.93[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs73432205	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8135424	0.85[AFR][1000 genomes]
rs8136767	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8136905	0.85[AFR][1000 genomes]
rs8136995	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8142681	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs9620808	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs9620809	0.85[AFR][1000 genomes]
rs9620810	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9620811	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9625498	0.91[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs9625509	0.90[EUR][1000 genomes]
rs9625512	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9625513	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9625514	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9625516	0.85[AFR][1000 genomes]
rs9625518	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9625520	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9625521	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9625522	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9625523	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9625524	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[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	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
4	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
5	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
6	nsv1061684	chr22:29026341-29088590	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv9895	chr22:29029961-29184277	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29004400-29041600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr22:29004800-29036000	Weak transcription	Fetal Muscle Leg	muscle
3	chr22:29005800-29054000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr22:29006400-29037000	Weak transcription	Fetal Stomach	stomach
5	chr22:29014000-29044600	Weak transcription	Psoas Muscle	Psoas
6	chr22:29017000-29052000	Weak transcription	Fetal Lung	lung
7	chr22:29017400-29056200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr22:29024600-29048800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr22:29025800-29048600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr22:29026600-29033400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr22:29026600-29035400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr22:29026600-29053800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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