Variant report

Variant	rs1651748
Chromosome Location	chr19:39541217-39541218
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10416823	0.85[EUR][1000 genomes]
rs10417436	0.85[EUR][1000 genomes]
rs10424632	0.85[EUR][1000 genomes]
rs10424827	0.87[EUR][1000 genomes]
rs10426645	0.84[EUR][1000 genomes]
rs10426661	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10853724	0.84[EUR][1000 genomes]
rs11083499	0.81[EUR][1000 genomes]
rs11083500	0.82[EUR][1000 genomes]
rs11083501	0.85[EUR][1000 genomes]
rs11667641	0.85[EUR][1000 genomes]
rs11670486	0.83[EUR][1000 genomes]
rs11670520	0.82[EUR][1000 genomes]
rs11880441	0.84[EUR][1000 genomes]
rs11883422	0.87[EUR][1000 genomes]
rs12609806	0.86[EUR][1000 genomes]
rs12971842	0.84[EUR][1000 genomes]
rs12972850	0.82[EUR][1000 genomes]
rs12972978	0.84[EUR][1000 genomes]
rs12978749	0.85[EUR][1000 genomes]
rs12982529	0.85[EUR][1000 genomes]
rs12985447	0.84[EUR][1000 genomes]
rs1840745	0.84[EUR][1000 genomes]
rs1840746	0.83[EUR][1000 genomes]
rs1840747	0.83[EUR][1000 genomes]
rs1840748	0.83[EUR][1000 genomes]
rs1864191	0.87[EUR][1000 genomes]
rs1869983	0.87[EUR][1000 genomes]
rs36154890	0.84[EUR][1000 genomes]
rs3848623	0.84[EUR][1000 genomes]
rs4280369	0.84[EUR][1000 genomes]
rs4803185	0.83[EUR][1000 genomes]
rs4803186	0.82[EUR][1000 genomes]
rs4803187	0.85[EUR][1000 genomes]
rs4803188	0.87[EUR][1000 genomes]
rs4803193	0.87[EUR][1000 genomes]
rs628335	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6508839	0.85[EUR][1000 genomes]
rs6508840	0.85[EUR][1000 genomes]
rs6508842	0.85[EUR][1000 genomes]
rs6508843	0.85[EUR][1000 genomes]
rs681496	0.83[EUR][1000 genomes]
rs7247801	0.84[EUR][1000 genomes]
rs7248513	0.84[EUR][1000 genomes]
rs7248652	0.84[EUR][1000 genomes]
rs7250110	0.87[EUR][1000 genomes]
rs7250431	0.88[EUR][1000 genomes]
rs7251264	0.87[EUR][1000 genomes]
rs7258862	0.87[EUR][1000 genomes]
rs7259064	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7259197	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7259801	0.83[EUR][1000 genomes]
rs8104751	0.86[EUR][1000 genomes]
rs8104899	0.86[EUR][1000 genomes]
rs8104990	0.85[EUR][1000 genomes]
rs8105865	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv963126	chr19:39521120-39552490	Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2760517	chr19:39530012-39544234	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv458571	chr19:39533754-39628050	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv579508	chr19:39533754-39628050	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs1651748	FBXO27	cis	Artery Tibial	GTEx
rs1651748	CTB-189B5.3	cis	Skin Sun Exposed Lower leg	GTEx
rs1651748	FBXO27	cis	Skin Sun Exposed Lower leg	GTEx
rs1651748	FBXO27	cis	Esophagus Mucosa	GTEx
rs1651748	CTB-189B5.3	cis	Esophagus Mucosa	GTEx

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39530800-39543000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr19:39537200-39541800	Weak transcription	HepG2	liver
3	chr19:39537600-39543000	Weak transcription	A549	lung
4	chr19:39538800-39542200	Weak transcription	Fetal Intestine Large	intestine
5	chr19:39538800-39543000	Weak transcription	Fetal Intestine Small	intestine
6	chr19:39541200-39546400	Weak transcription	Right Atrium	heart

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