Variant report

Variant	rs2048113
Chromosome Location	chr6:54577218-54577219
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:54574954..54578587-chr6:54580352..54583856,5	MCF-7	breast:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10948839	0.93[EUR][1000 genomes]
rs10948840	0.82[ASN][1000 genomes]
rs10948846	0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs11966577	0.94[EUR][1000 genomes]
rs11967781	1.00[CHB][hapmap]
rs12208090	0.91[CHB][hapmap];0.93[CHD][hapmap]
rs12525001	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs12527080	0.83[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs12527124	0.83[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs12527767	0.84[EUR][1000 genomes]
rs12528270	0.84[ASN][1000 genomes]
rs12528881	0.86[ASN][1000 genomes]
rs12661998	0.82[ASN][1000 genomes]
rs12662465	0.83[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs1395627	0.92[EUR][1000 genomes]
rs16869519	0.83[CHB][hapmap];0.80[CHD][hapmap];0.87[JPT][hapmap];0.83[MEX][hapmap];0.84[ASN][1000 genomes]
rs16885654	0.90[EUR][1000 genomes]
rs16885760	0.92[EUR][1000 genomes]
rs16885866	0.83[CHB][hapmap];0.82[ASN][1000 genomes]
rs16885911	0.82[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs16885948	0.82[ASN][1000 genomes]
rs1948954	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1983140	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2048112	0.86[ASN][1000 genomes]
rs34659714	0.94[EUR][1000 genomes]
rs34752465	0.82[ASN][1000 genomes]
rs4712065	0.90[EUR][1000 genomes]
rs4712066	0.91[EUR][1000 genomes]
rs4712068	0.83[CHB][hapmap];0.83[JPT][hapmap];0.86[ASN][1000 genomes]
rs4715466	0.94[EUR][1000 genomes]
rs4715469	0.91[CHB][hapmap]
rs4715470	0.85[ASN][1000 genomes]
rs4715478	0.81[ASN][1000 genomes]
rs4994100	0.82[ASN][1000 genomes]
rs541689	0.87[EUR][1000 genomes]
rs58302712	0.82[ASN][1000 genomes]
rs60501416	0.82[ASN][1000 genomes]
rs61375854	0.92[EUR][1000 genomes]
rs67799698	0.84[ASN][1000 genomes]
rs67875074	0.84[ASN][1000 genomes]
rs6906715	0.91[CHB][hapmap]
rs6915244	0.82[ASN][1000 genomes]
rs73440097	0.92[EUR][1000 genomes]
rs73442093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73444113	0.86[ASN][1000 genomes]
rs73444116	0.84[ASN][1000 genomes]
rs73444125	0.86[ASN][1000 genomes]
rs73446026	0.82[ASN][1000 genomes]
rs73446030	0.82[ASN][1000 genomes]
rs73446036	0.82[ASN][1000 genomes]
rs73446043	0.82[ASN][1000 genomes]
rs7450207	0.94[EUR][1000 genomes]
rs7740110	1.00[CEU][hapmap];0.87[CHB][hapmap];0.93[GIH][hapmap];0.93[TSI][hapmap];0.93[EUR][1000 genomes]
rs7746312	0.91[CHB][hapmap]
rs7753964	0.90[EUR][1000 genomes]
rs7766941	0.87[EUR][1000 genomes]
rs950077	0.94[EUR][1000 genomes]
rs953896	0.94[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:6 , 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	chr6:54576800-54577800	Enhancers	Fetal Heart	heart

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