Variant report

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10201670	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13396649	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13401661	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13412839	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13422751	0.86[ASN][1000 genomes]
rs17046283	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17046292	0.92[ASN][1000 genomes]
rs2033414	0.83[ASN][1000 genomes]
rs2033415	0.83[ASN][1000 genomes]
rs2288682	0.85[AFR][1000 genomes]
rs4671974	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4671975	0.81[AFR][1000 genomes]
rs4671976	0.87[ASN][1000 genomes]
rs59516754	0.83[ASN][1000 genomes]
rs62136877	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6712305	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7565441	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7567746	0.82[AFR][1000 genomes]
rs7567900	0.89[AFR][1000 genomes]
rs7600540	0.86[AFR][1000 genomes]
rs868700	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9711112	0.83[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	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv582024	chr2:54894649-54999712	Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1005449	chr2:54938633-55129503	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs13390196	CCDC85A	cis	cerebellum	SCAN
rs13390196	ERLEC1	cis	cerebellum	SCAN
rs13390196	SPTBN1	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54967200-54977200	Weak transcription	Pancreas	Pancrea
2	chr2:54969600-54975400	Weak transcription	HepG2	liver
3	chr2:54970400-54975600	Weak transcription	Gastric	stomach

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