Variant report

Variant	rs796462
Chromosome Location	chr12:56465193-56465194
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	chr12:56464666..56467549-chr12:56498079..56499620,2	MCF-7	breast:
2	chr12:56435369..56438636-chr12:56464325..56466341,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257449	Chromatin interaction
ENSG00000170515	Chromatin interaction
ENSG00000197728	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10783777	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs10783778	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs10876867	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs1091527	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs11171735	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs1626158	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs1689517	0.80[AMR][1000 genomes]
rs1689518	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs1702872	0.84[AMR][1000 genomes]
rs2640563	0.89[AFR][1000 genomes]
rs2640565	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2640566	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs2661728	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs2661729	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs2934152	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs2940413	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs4417324	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs7300292	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs7304586	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs7304690	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs7953107	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051961	chr12:56262220-56629427	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	284 gene(s)	inside rSNPs	diseases
2	nsv832424	chr12:56275226-56466917	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
3	nsv1043988	chr12:56348185-56534900	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
4	nsv832427	chr12:56392545-56512774	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56437000-56472800	Weak transcription	Right Atrium	heart
2	chr12:56454400-56467800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:56456000-56465800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:56464800-56467200	Enhancers	Placenta	Placenta
5	chr12:56465000-56466200	Enhancers	NHDF-Ad	bronchial
6	chr12:56465000-56466400	Enhancers	NHEK	skin
7	chr12:56465000-56466600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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