Variant report

Variant	rs13138774
Chromosome Location	chr4:122814169-122814170
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10024820	0.80[ASN][1000 genomes]
rs10084948	0.80[ASN][1000 genomes]
rs10518289	0.94[EUR][1000 genomes]
rs11721457	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11732666	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11733882	0.80[ASN][1000 genomes]
rs12510839	0.80[ASN][1000 genomes]
rs13108360	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13117282	0.91[EUR][1000 genomes]
rs13119055	0.81[ASN][1000 genomes]
rs13119958	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13121963	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13127488	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13133876	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13141092	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13143218	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13145213	0.81[ASN][1000 genomes]
rs13152701	0.81[ASN][1000 genomes]
rs1507991	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17005256	0.81[ASN][1000 genomes]
rs2271176	0.81[ASN][1000 genomes]
rs2292232	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35495505	0.83[ASN][1000 genomes]
rs3762840	0.80[ASN][1000 genomes]
rs3805158	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3805161	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4833236	0.80[ASN][1000 genomes]
rs4833777	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4833778	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61545746	0.86[EUR][1000 genomes]
rs67775544	0.83[ASN][1000 genomes]
rs769236	0.80[ASN][1000 genomes]
rs884701	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs906494	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs906495	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs951974	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9995319	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817261	chr4:122085173-123020068	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv997539	chr4:122544104-123274266	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv530157	chr4:122557302-123248756	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer 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 miRNA target site	21 gene(s)	inside rSNPs	diseases
4	esv1803127	chr4:122806228-122830334	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1014729	chr4:122806228-122848966	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13138774	EXOSC9	Cis_1M	lymphoblastoid	RTeQTL
rs13138774	CCNA2	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122813400-122860600	Weak transcription	Fetal Lung	lung

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