Variant report

Variant	rs2430048
Chromosome Location	chr7:122294181-122294182
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:122293297..122295809-chr7:122299127..122301217,2	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs12530951	0.97[EUR][1000 genomes]
rs12532793	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12533063	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12538550	0.88[EUR][1000 genomes]
rs1476898	0.93[EUR][1000 genomes]
rs1860855	0.82[AFR][1000 genomes]
rs1860857	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1968146	0.89[EUR][1000 genomes]
rs1968147	0.89[EUR][1000 genomes]
rs2215665	0.82[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2215668	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2430023	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2430028	0.89[EUR][1000 genomes]
rs2430044	0.81[ASN][1000 genomes]
rs2430045	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2430047	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2430049	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2430050	0.81[ASN][1000 genomes]
rs2471181	0.89[EUR][1000 genomes]
rs2471182	0.89[EUR][1000 genomes]
rs2471187	0.80[ASN][1000 genomes]
rs2471189	0.81[ASN][1000 genomes]
rs2471191	0.81[ASN][1000 genomes]
rs2471194	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2471195	0.81[ASN][1000 genomes]
rs2471196	0.81[ASN][1000 genomes]
rs2471197	0.81[ASN][1000 genomes]
rs2471202	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2471206	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2471212	0.82[AFR][1000 genomes]
rs3808171	0.85[EUR][1000 genomes]
rs4727944	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73220284	0.88[EUR][1000 genomes]
rs73220288	0.84[EUR][1000 genomes]
rs7793961	0.93[EUR][1000 genomes]
rs7794897	0.98[EUR][1000 genomes]
rs7797968	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs986999	0.97[EUR][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	nsv1017029	chr7:121958574-122338623	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv532178	chr7:122203056-122978846	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv532179	chr7:122249639-122986259	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv532181	chr7:122291571-122684719	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 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	chr7:122293400-122294400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:122293600-122318600	Weak transcription	Lung	lung
3	chr7:122294000-122314400	Weak transcription	Fetal Lung	lung

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