Variant report

Variant	rs56322120
Chromosome Location	chr12:44220118-44220119
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:44219284..44222535-chr12:44223504..44226954,3	MCF-7	breast:
2	chr12:44197555..44202082-chr12:44219321..44224097,7	MCF-7	breast:
3	chr12:44218902..44220494-chr12:44234363..44236818,2	K562	blood:
4	chr12:44199160..44201447-chr12:44218209..44220923,3	K562	blood:
5	chr12:44219031..44221525-chr12:44228906..44231252,2	K562	blood:

Variant related genes	Relation type
ENSG00000151239	Chromatin interaction
ENSG00000139173	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11182288	0.86[AMR][1000 genomes]
rs13377809	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17093993	1.00[ASN][1000 genomes]
rs17094007	1.00[ASN][1000 genomes]
rs55759317	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55913788	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56008731	1.00[ASN][1000 genomes]
rs56011342	1.00[ASN][1000 genomes]
rs56114967	1.00[ASN][1000 genomes]
rs56168228	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57066844	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57331385	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58938395	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60120002	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61567111	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61930676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61930678	0.81[EUR][1000 genomes]
rs61930689	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61930691	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61930693	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61933174	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61933176	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61933177	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61933179	0.97[EUR][1000 genomes]
rs61933180	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7132451	1.00[ASN][1000 genomes]
rs71435964	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73085788	1.00[ASN][1000 genomes]
rs73087603	1.00[ASN][1000 genomes]
rs73087605	1.00[ASN][1000 genomes]
rs73087610	1.00[ASN][1000 genomes]
rs73087626	1.00[ASN][1000 genomes]
rs73087687	1.00[ASN][1000 genomes]
rs73087696	1.00[ASN][1000 genomes]
rs7311778	1.00[ASN][1000 genomes]
rs7960478	1.00[ASN][1000 genomes]
rs7971036	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933142	chr12:44130156-44278300	Active TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv899048	chr12:44209423-44307888	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44208400-44223600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:44218200-44220200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr12:44219800-44220400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr12:44220000-44220200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:44220000-44221800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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