Variant report

Variant	rs2048112
Chromosome Location	chr6:54579465-54579466
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:54564442..54567295-chr6:54579442..54581907,3	MCF-7	breast:
2	chr6:54577953..54579734-chr6:54746271..54747974,2	MCF-7	breast:
3	chr6:54579097..54581073-chr6:54581334..54583325,2	MCF-7	breast:
4	chr6:54578251..54580318-chr6:54581650..54584206,2	MCF-7	breast:
5	chr6:54577593..54590845-chr6:54708062..54715554,67	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168143	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1039495	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1039496	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10948840	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10948844	0.90[ASN][1000 genomes]
rs10948846	0.96[ASN][1000 genomes]
rs12525539	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12527042	0.92[ASN][1000 genomes]
rs12527077	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12527080	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12527124	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12528270	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12528881	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12529275	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12661998	0.96[ASN][1000 genomes]
rs12662465	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1395624	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1648200	0.80[EUR][1000 genomes]
rs1648201	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16869519	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16885649	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16885656	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16885668	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16885735	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16885866	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16885911	0.96[ASN][1000 genomes]
rs16885948	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1745079	0.80[EUR][1000 genomes]
rs1948954	0.81[ASN][1000 genomes]
rs1951693	0.82[EUR][1000 genomes]
rs1976539	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1983140	0.85[ASN][1000 genomes]
rs2048113	0.86[ASN][1000 genomes]
rs2894821	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34752465	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35953958	0.94[ASN][1000 genomes]
rs4712068	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4715468	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4715470	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4715478	0.95[ASN][1000 genomes]
rs4994100	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58302712	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60501416	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs608873	0.92[EUR][1000 genomes]
rs67799698	0.99[ASN][1000 genomes]
rs67875074	0.99[ASN][1000 genomes]
rs6915244	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73442093	0.86[ASN][1000 genomes]
rs73444113	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73444116	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73444125	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73446026	0.96[ASN][1000 genomes]
rs73446030	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73446036	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73446043	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7751908	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7761021	0.92[EUR][1000 genomes]
rs9349726	0.92[EUR][1000 genomes]
rs9370323	0.82[EUR][1000 genomes]
rs9474957	0.85[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885900	chr6:54517968-54852462	Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 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	chr6:54571400-54579800	Weak transcription	Fetal Intestine Small	intestine
2	chr6:54575200-54579600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr6:54575600-54579600	Weak transcription	Stomach Mucosa	stomach
4	chr6:54575800-54580400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr6:54575800-54581800	Weak transcription	Fetal Lung	lung
6	chr6:54579000-54579800	Active TSS	Liver	Liver
7	chr6:54579400-54580000	Enhancers	HepG2	liver

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