Variant report

Variant	rs2430047
Chromosome Location	chr7:122294225-122294226
allele	A/T
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: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs12530951	0.80[ASN][1000 genomes]
rs12532793	1.00[ASN][1000 genomes]
rs12533063	0.83[ASN][1000 genomes]
rs12538945	0.82[ASN][1000 genomes]
rs1476898	0.81[ASN][1000 genomes]
rs1544595	0.80[EUR][1000 genomes]
rs1860855	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1860857	0.82[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2159827	0.80[EUR][1000 genomes]
rs2192018	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2192024	0.82[ASN][1000 genomes]
rs2215665	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2215668	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2251761	0.80[EUR][1000 genomes]
rs2430029	0.88[EUR][1000 genomes]
rs2430031	0.81[ASN][1000 genomes]
rs2430032	0.82[ASN][1000 genomes]
rs2430034	0.80[EUR][1000 genomes]
rs2430042	0.81[ASN][1000 genomes]
rs2430044	0.83[ASN][1000 genomes]
rs2430045	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2430048	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2430049	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2430050	0.83[ASN][1000 genomes]
rs2471185	0.81[ASN][1000 genomes]
rs2471187	0.82[ASN][1000 genomes]
rs2471189	0.83[ASN][1000 genomes]
rs2471190	0.82[ASN][1000 genomes]
rs2471191	0.83[ASN][1000 genomes]
rs2471193	0.81[ASN][1000 genomes]
rs2471194	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2471195	0.83[ASN][1000 genomes]
rs2471196	0.83[ASN][1000 genomes]
rs2471197	0.83[ASN][1000 genomes]
rs2471200	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2471202	0.81[ASN][1000 genomes]
rs2471206	0.86[AFR][1000 genomes]
rs2471212	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2471215	0.83[EUR][1000 genomes]
rs2471216	0.83[EUR][1000 genomes]
rs4727944	0.82[ASN][1000 genomes]
rs7789692	0.81[ASN][1000 genomes]
rs7797968	0.96[ASN][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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