Variant report

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10225755	0.83[EUR][1000 genomes]
rs10236164	0.87[EUR][1000 genomes]
rs10236310	0.87[EUR][1000 genomes]
rs10458294	0.81[EUR][1000 genomes]
rs10954037	0.85[EUR][1000 genomes]
rs1181803	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1181805	0.85[EUR][1000 genomes]
rs1181807	0.89[EUR][1000 genomes]
rs12706607	0.86[EUR][1000 genomes]
rs12706608	0.86[EUR][1000 genomes]
rs12706609	0.86[EUR][1000 genomes]
rs13243734	0.86[EUR][1000 genomes]
rs17147239	0.87[EUR][1000 genomes]
rs17394006	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17472367	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2159182	0.91[EUR][1000 genomes]
rs2402732	0.86[EUR][1000 genomes]
rs4731191	0.87[EUR][1000 genomes]
rs6948690	0.86[EUR][1000 genomes]
rs6968639	0.86[EUR][1000 genomes]
rs73219044	0.81[EUR][1000 genomes]
rs7777394	0.88[EUR][1000 genomes]
rs7777417	0.87[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	esv1795113	chr7:123885477-124188665	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv429809	chr7:123937674-124835925	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
3	esv1808414	chr7:123957376-124188665	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv525687	chr7:124138187-124196444	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv608340	chr7:124138187-124196444	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv831118	chr7:124172267-124347527	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1181804	TP53AIP1	trans	parietal	SCAN
rs1181804	PTPRZ1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124181800-124182600	Enhancers	Fetal Stomach	stomach
2	chr7:124181800-124183200	Weak transcription	Fetal Lung	lung

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