Variant report

Variant	rs11249574
Chromosome Location	chr5:178231181-178231182
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:178228775..178231759-chr5:178257850..178260513,2	MCF-7	breast:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs11249580	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11739648	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11742308	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11742485	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11744463	0.90[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs11747490	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11747908	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11749468	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11750068	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11750778	0.88[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs11750817	0.82[AMR][1000 genomes]
rs12054952	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12055318	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12055319	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13163498	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13163978	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13163995	0.83[EUR][1000 genomes]
rs13167335	0.90[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs13181764	0.82[AMR][1000 genomes]
rs13184871	0.89[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs13184885	0.88[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs13186155	0.83[AFR][1000 genomes]
rs28786208	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34040448	0.90[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs34097808	0.83[AFR][1000 genomes]
rs34329741	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34333217	0.88[AFR][1000 genomes]
rs34404810	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34615592	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34638365	0.90[AFR][1000 genomes]
rs34654809	0.88[AFR][1000 genomes]
rs34742934	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34744054	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34755091	0.88[AFR][1000 genomes]
rs34987899	0.83[AFR][1000 genomes]
rs35191404	0.85[AFR][1000 genomes]
rs35320769	0.89[AFR][1000 genomes]
rs35374087	0.90[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs35714569	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35930664	0.90[AFR][1000 genomes]
rs55661365	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs55893193	0.88[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs55897858	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs56078392	0.83[AFR][1000 genomes]
rs56081363	0.88[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs56090685	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56162146	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56345756	0.90[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs56399130	0.90[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs62392962	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62392963	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6877160	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6881517	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6883437	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7443212	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7446411	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7708433	0.83[AMR][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	nsv1031666	chr5:177988601-178236068	Bivalent/Poised TSS Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers 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
2	nsv1031206	chr5:178149292-178283614	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv537973	chr5:178149292-178283614	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv462573	chr5:178180299-178241495	Bivalent Enhancer ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv600452	chr5:178180299-178241495	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv883218	chr5:178219855-178349391	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178227200-178232400	Weak transcription	Right Atrium	heart
2	chr5:178228400-178232000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:178230800-178231800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr5:178230800-178232000	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr5:178231000-178235800	Weak transcription	K562	blood

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