Variant report

Variant	rs12477015
Chromosome Location	chr2:76741695-76741696
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11688462	0.83[ASN][1000 genomes]
rs12463620	0.81[ASN][1000 genomes]
rs12464763	0.80[ASN][1000 genomes]
rs12475718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12476072	0.83[ASN][1000 genomes]
rs12477049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12477122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12613882	0.85[ASN][1000 genomes]
rs12618802	0.84[ASN][1000 genomes]
rs12621334	0.82[ASN][1000 genomes]
rs12624158	0.86[ASN][1000 genomes]
rs12991135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13020282	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13020905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17012789	0.84[ASN][1000 genomes]
rs17516461	0.92[ASN][1000 genomes]
rs1921241	0.83[ASN][1000 genomes]
rs1921242	0.82[ASN][1000 genomes]
rs1921249	0.82[ASN][1000 genomes]
rs2178518	0.80[ASN][1000 genomes]
rs28824528	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34486900	0.81[ASN][1000 genomes]
rs35620139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35674985	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4853246	0.81[ASN][1000 genomes]
rs4853247	0.80[ASN][1000 genomes]
rs60185714	0.80[ASN][1000 genomes]
rs61331198	0.81[ASN][1000 genomes]
rs72809051	0.92[ASN][1000 genomes]
rs7559351	0.92[ASN][1000 genomes]
rs7563300	0.92[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874317	chr2:76554077-76890567	Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12477015	SFXN5	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:76737800-76741800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:76740000-76741800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:76741600-76741800	Enhancers	HUES48 Cell Line	embryonic stem cell

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