Variant report

Variant	rs12302161
Chromosome Location	chr12:22242064-22242065
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:22241159..22243992-chr12:22244769..22247704,2	K562	blood:
2	chr12:22198301..22201550-chr12:22239429..22242736,3	K562	blood:

Variant related genes	Relation type
ENSG00000111726	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10770879	1.00[AMR][1000 genomes]
rs11046278	1.00[AMR][1000 genomes]
rs11046283	1.00[AMR][1000 genomes]
rs11046284	1.00[AMR][1000 genomes]
rs11046285	1.00[AMR][1000 genomes]
rs11046286	1.00[AMR][1000 genomes]
rs11046287	1.00[AMR][1000 genomes]
rs11046288	1.00[AMR][1000 genomes]
rs12296561	1.00[AMR][1000 genomes]
rs12297555	1.00[AMR][1000 genomes]
rs12302990	1.00[AMR][1000 genomes]
rs12306240	1.00[AMR][1000 genomes]
rs12307136	1.00[AMR][1000 genomes]
rs12309596	1.00[AMR][1000 genomes]
rs12315697	1.00[AMR][1000 genomes]
rs12318153	1.00[AMR][1000 genomes]
rs1861713	1.00[AMR][1000 genomes]
rs4237917	1.00[AMR][1000 genomes]
rs4326848	1.00[AMR][1000 genomes]
rs57275562	1.00[AMR][1000 genomes]
rs57886357	1.00[AMR][1000 genomes]
rs7314865	1.00[AMR][1000 genomes]
rs73265986	1.00[AMR][1000 genomes]
rs73265990	1.00[AMR][1000 genomes]
rs73265997	1.00[AMR][1000 genomes]
rs73266000	1.00[AMR][1000 genomes]
rs73267912	1.00[AMR][1000 genomes]
rs73267999	1.00[AMR][1000 genomes]
rs73270009	1.00[AMR][1000 genomes]
rs73270012	1.00[AMR][1000 genomes]
rs7961937	1.00[AMR][1000 genomes]
rs7973525	1.00[AMR][1000 genomes]
rs7977201	1.00[AMR][1000 genomes]
rs9788008	1.00[AMR][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	nsv1051073	chr12:21910875-22271209	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2758298	chr12:22140834-22339299	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv2759883	chr12:22140834-22736907	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	esv1850259	chr12:22198865-22244741	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv437729	chr12:22234058-22268523	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:22241600-22242200	Enhancers	HMEC	breast
2	chr12:22241600-22242600	Enhancers	NHEK	skin
3	chr12:22241800-22242200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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