Variant report

Variant	rs4801723
Chromosome Location	chr19:38854554-38854555
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:38851531..38855576-chr19:38863499..38866575,5	MCF-7	breast:
2	chr19:38851827..38854715-chr19:38877414..38880419,4	K562	blood:
3	chr19:38850348..38855103-chr19:38862504..38867180,11	K562	blood:
4	chr19:38826766..38829028-chr19:38851929..38854753,2	K562	blood:
5	chr19:38849999..38854779-chr19:38863669..38868606,10	K562	blood:

Variant related genes	Relation type
ENSG00000099341	Chromatin interaction
ENSG00000099338	Chromatin interaction
ENSG00000179168	Chromatin interaction
ENSG00000188766	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11666449	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11668651	0.89[EUR][1000 genomes]
rs11669131	0.85[EUR][1000 genomes]
rs11669230	0.81[EUR][1000 genomes]
rs11672219	0.81[EUR][1000 genomes]
rs11673203	0.86[EUR][1000 genomes]
rs2270093	0.82[AMR][1000 genomes]
rs2270094	0.82[AMR][1000 genomes]
rs2286473	0.83[EUR][1000 genomes]
rs2302182	0.86[EUR][1000 genomes]
rs2302183	0.89[EUR][1000 genomes]
rs2304177	0.81[EUR][1000 genomes]
rs2368484	0.85[EUR][1000 genomes]
rs2887262	0.86[EUR][1000 genomes]
rs34989303	0.82[EUR][1000 genomes]
rs35308902	0.81[EUR][1000 genomes]
rs4802326	0.81[EUR][1000 genomes]
rs4802327	0.81[EUR][1000 genomes]
rs4804016	0.83[EUR][1000 genomes]
rs57681346	0.88[EUR][1000 genomes]
rs60082376	0.88[EUR][1000 genomes]
rs60487067	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61091932	0.87[EUR][1000 genomes]
rs7256575	0.82[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	nsv1063471	chr19:38734744-39148392	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
2	nsv833822	chr19:38760748-38945105	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv911658	chr19:38785318-39002140	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
4	nsv470140	chr19:38840139-39119494	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	nsv911659	chr19:38852357-39002140	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv911660	chr19:38852357-39060238	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4801723	YIF1B	cis	Whole Blood	GTEx
rs4801723	C19orf33	cis	Heart Left Ventricle	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38853800-38855600	Weak transcription	Lung	lung
2	chr19:38853800-38864400	Weak transcription	A549	lung

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