Variant report

Variant	rs56138287
Chromosome Location	chr4:104145530-104145531
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10516501	0.80[AMR][1000 genomes]
rs11097803	0.80[AMR][1000 genomes]
rs11097805	0.80[AMR][1000 genomes]
rs1116825	0.88[AMR][1000 genomes]
rs11725628	0.80[AMR][1000 genomes]
rs11725629	0.80[AMR][1000 genomes]
rs11725732	0.80[AMR][1000 genomes]
rs11727029	0.85[ASN][1000 genomes]
rs11731045	0.80[AMR][1000 genomes]
rs12504462	0.88[AMR][1000 genomes]
rs12507291	0.80[AMR][1000 genomes]
rs12509895	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1607093	0.88[AMR][1000 genomes]
rs17033496	0.88[AMR][1000 genomes]
rs17217431	0.81[ASN][1000 genomes]
rs17217592	0.81[ASN][1000 genomes]
rs17219388	0.80[AMR][1000 genomes]
rs17284096	0.88[AMR][1000 genomes]
rs17285422	0.80[AMR][1000 genomes]
rs34495522	0.88[AMR][1000 genomes]
rs34690453	0.88[AMR][1000 genomes]
rs55894160	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56012008	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56154982	0.84[AMR][1000 genomes]
rs56166805	0.84[AMR][1000 genomes]
rs56186349	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56224923	0.88[AMR][1000 genomes]
rs58888668	0.85[ASN][1000 genomes]
rs59192877	0.83[ASN][1000 genomes]
rs59341670	0.85[ASN][1000 genomes]
rs61051837	0.88[AMR][1000 genomes]
rs61264314	0.86[AMR][1000 genomes]
rs6533061	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6533076	0.84[AMR][1000 genomes]
rs66976033	0.88[AMR][1000 genomes]
rs6822891	0.81[ASN][1000 genomes]
rs6837114	0.81[ASN][1000 genomes]
rs6849969	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72666812	0.83[ASN][1000 genomes]
rs7656832	0.88[AMR][1000 genomes]
rs7664536	0.80[AMR][1000 genomes]
rs7675972	0.88[AMR][1000 genomes]
rs9683416	0.84[AMR][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	esv3429917	chr4:103915319-104207455	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS 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	20 gene(s)	inside rSNPs	diseases
2	nsv1015023	chr4:104039145-104565217	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv830022	chr4:104087199-104257784	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv821637	chr4:104134839-104246167	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs56138287	BDH2	cis	Artery Tibial	GTEx
rs56138287	BDH2	cis	Thyroid	GTEx
rs56138287	BDH2	cis	Esophagus Muscularis	GTEx
rs56138287	BDH2	cis	lung	GTEx
rs56138287	BDH2	cis	Skin Sun Exposed Lower leg	GTEx
rs56138287	BDH2	cis	Muscle Skeletal	GTEx
rs56138287	BDH2	cis	Nerve Tibial	GTEx
rs56138287	BDH2	cis	Adipose Subcutaneous	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:104144400-104146800	Enhancers	Fetal Intestine Small	intestine
2	chr4:104145000-104146600	Enhancers	Fetal Intestine Large	intestine
3	chr4:104145200-104146200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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