Variant report

Variant	rs12618802
Chromosome Location	chr2:76725088-76725089
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10196661	0.86[ASN][1000 genomes]
rs11688462	0.97[ASN][1000 genomes]
rs12463620	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12464763	0.93[ASN][1000 genomes]
rs12475718	0.84[ASN][1000 genomes]
rs12476072	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12477015	0.84[ASN][1000 genomes]
rs12477049	0.84[ASN][1000 genomes]
rs12477122	0.84[ASN][1000 genomes]
rs12613882	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12621334	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12624158	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12991135	0.84[ASN][1000 genomes]
rs13020282	0.84[ASN][1000 genomes]
rs13020905	0.84[ASN][1000 genomes]
rs17012789	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17516461	0.81[ASN][1000 genomes]
rs1921241	0.97[ASN][1000 genomes]
rs1921242	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1921249	0.96[ASN][1000 genomes]
rs1997450	0.92[ASN][1000 genomes]
rs2178518	0.92[ASN][1000 genomes]
rs28824528	0.84[ASN][1000 genomes]
rs28884919	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34486900	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35620139	0.84[ASN][1000 genomes]
rs35674985	0.84[ASN][1000 genomes]
rs3923527	0.86[ASN][1000 genomes]
rs4264582	0.85[ASN][1000 genomes]
rs4853245	0.87[ASN][1000 genomes]
rs4853246	0.94[ASN][1000 genomes]
rs4853247	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60185714	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61331198	0.94[ASN][1000 genomes]
rs72809051	0.81[ASN][1000 genomes]
rs7422743	0.91[ASN][1000 genomes]
rs7559351	0.81[ASN][1000 genomes]
rs7563300	0.81[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
rs12618802	ANXA1	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:76720000-76728800	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr2:76721600-76725600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:76724400-76726600	Enhancers	Fetal Heart	heart

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