Variant report

Variant	rs1594742
Chromosome Location	chr8:122102802-122102803
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:122076665..122079021-chr8:122101521..122103140,2	MCF-7	breast:
2	chr8:122100040..122104775-chr8:122105426..122111555,7	MCF-7	breast:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs12676933	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12678662	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12680902	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12681516	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1347231	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1368603	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1433397	0.88[ASN][1000 genomes]
rs1594741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1594743	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1631099	0.88[ASN][1000 genomes]
rs16894516	0.88[ASN][1000 genomes]
rs16894530	0.88[ASN][1000 genomes]
rs16894534	0.88[ASN][1000 genomes]
rs1714642	0.87[ASN][1000 genomes]
rs1714653	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1812421	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1865180	0.88[ASN][1000 genomes]
rs2043373	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2043377	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2068952	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2117063	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2117064	0.94[ASN][1000 genomes]
rs2163922	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4870757	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4871152	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4871154	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4871155	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4871156	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4871157	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4871158	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871159	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6469984	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6469985	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6469986	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6469987	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6982541	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7003498	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7007419	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7012535	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73315279	0.92[ASN][1000 genomes]
rs73317195	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73318915	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73318932	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs961427	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs961428	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9774583	0.90[ASN][1000 genomes]
rs9969592	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv465790	chr8:121853405-122185415	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv612114	chr8:121853405-122185415	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv891424	chr8:121873345-122393258	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv1844734	chr8:121928250-122283585	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv3330574	chr8:122039099-122386130	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv891426	chr8:122078334-122393258	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:122099800-122107000	Weak transcription	Fetal Lung	lung
2	chr8:122102400-122103600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:122102400-122107000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:122102400-122108800	Weak transcription	NHDF-Ad	bronchial

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