Variant report

Variant	rs13384194
Chromosome Location	chr2:172353787-172353788
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10490604	0.94[CHB][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs10515933	0.96[CHD][hapmap];0.84[GIH][hapmap]
rs10930476	0.94[ASN][1000 genomes]
rs1476111	1.00[CHB][hapmap];0.89[JPT][hapmap];0.92[ASN][1000 genomes]
rs17220419	0.92[CHD][hapmap];0.82[GIH][hapmap]
rs17220734	0.96[CHD][hapmap];0.84[GIH][hapmap]
rs17221346	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.84[JPT][hapmap];0.95[ASN][1000 genomes]
rs17221619	0.83[ASN][1000 genomes]
rs17286415	0.96[CHD][hapmap];0.84[GIH][hapmap]
rs28742013	0.92[ASN][1000 genomes]
rs3731982	1.00[CHD][hapmap];0.84[GIH][hapmap]
rs3731983	0.96[CHD][hapmap];0.84[GIH][hapmap]
rs3795998	0.96[CHD][hapmap];0.84[GIH][hapmap]
rs3821084	0.96[CHD][hapmap];0.84[GIH][hapmap]
rs4458186	0.84[GIH][hapmap]
rs4522571	0.92[CHD][hapmap];0.84[GIH][hapmap]
rs4667689	0.92[ASN][1000 genomes]
rs4668387	0.96[CHD][hapmap];0.84[GIH][hapmap]
rs55999882	0.89[ASN][1000 genomes]
rs58182652	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58267868	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62183504	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62183537	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62183540	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433291	0.88[CHB][hapmap];0.96[CHD][hapmap];0.95[GIH][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs6718740	0.88[ASN][1000 genomes]
rs6751956	0.88[CHB][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap];0.89[JPT][hapmap];0.88[MKK][hapmap];0.88[ASN][1000 genomes]
rs7573183	0.83[ASN][1000 genomes]
rs7594714	0.91[ASN][1000 genomes]
rs7598137	0.82[GIH][hapmap]
rs7600478	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9789380	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9789572	0.96[CHD][hapmap];0.84[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv1832950	chr2:172283513-172488111	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs13384194	CYBRD1	Cis_1M	lymphoblastoid	RTeQTL
rs13384194	ATF2	cis	cerebellum	SCAN
rs13384194	G6PC2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172340000-172368400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:172348600-172355000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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