Variant report

Variant	rs72924928
Chromosome Location	chr11:34518041-34518042
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	chr11:34514573..34518104-chr11:34518598..34523939,6	K562	blood:
2	chr11:34516973..34519937-chr11:34521285..34524160,2	MCF-7	breast:

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10488737	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12418222	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12421999	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16925614	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16925662	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16925668	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16925673	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16925678	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2076556	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2231819	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2300182	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3758735	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3758736	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3758737	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3758738	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4755374	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4756146	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4756151	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4756155	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4756156	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55633825	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55665450	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55941777	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56291727	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7102889	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7104121	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7104394	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7106485	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7109462	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7109778	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7115064	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7126085	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7126243	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7130331	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7130345	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72923163	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72924903	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72927347	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72927368	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72927369	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72927372	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7395059	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7928866	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7935626	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7938373	0.91[AMR][1000 genomes];0.99[EUR][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	nsv897207	chr11:34253683-34621004	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv897208	chr11:34257064-34562247	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv897209	chr11:34309519-34548906	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv832114	chr11:34424428-34607851	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	esv2761661	chr11:34513932-34519578	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
6	nsv897211	chr11:34514941-34609541	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72924928	CAT	cis	Whole Blood	GTEx

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34516800-34519000	Enhancers	Fetal Lung	lung
2	chr11:34517000-34520400	Weak transcription	Lung	lung
3	chr11:34517600-34521000	Weak transcription	Hela-S3	cervix
4	chr11:34517800-34518200	Enhancers	Fetal Thymus	thymus
5	chr11:34517800-34518400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:34517800-34519400	Enhancers	HepG2	liver
7	chr11:34518000-34518200	Enhancers	Gastric	stomach

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