Variant report

Variant	rs73027480
Chromosome Location	chr19:38391300-38391301
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:38390778..38392835-chr19:38745904..38747649,2	K562	blood:

Variant related genes	Relation type
ENSG00000167641	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12150862	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12151082	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17248097	0.84[EUR][1000 genomes]
rs17248670	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17249138	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17249336	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3859549	0.84[EUR][1000 genomes]
rs4536583	0.84[EUR][1000 genomes]
rs4614853	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55752822	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55813548	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55974157	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55983118	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56080901	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56184201	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56207124	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56230664	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56233644	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56246446	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56268127	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56300335	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56676595	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7245962	0.88[EUR][1000 genomes]
rs7257266	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7258011	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73027472	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73034922	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73041036	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7343065	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8110293	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv833820	chr19:38190721-38414049	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1064401	chr19:38387797-38427984	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs73027480	AC012309.5	cis	Esophagus Mucosa	GTEx
rs73027480	ZNF781	cis	Thyroid	GTEx
rs73027480	AC012309.5	cis	Thyroid	GTEx
rs73027480	AC012309.5	cis	Esophagus Muscularis	GTEx
rs73027480	AC012309.5	cis	Muscle Skeletal	GTEx
rs73027480	AC012309.5	cis	Artery Tibial	GTEx
rs73027480	AC012309.5	cis	Heart Left Ventricle	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38389600-38396600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr19:38389800-38391800	Weak transcription	Placenta	Placenta
3	chr19:38390400-38391400	Enhancers	A549	lung
4	chr19:38390800-38393200	Weak transcription	Primary B cells from peripheral blood	blood

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