Variant report

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12211136	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1540939	0.86[ASN][1000 genomes]
rs1540940	0.86[ASN][1000 genomes]
rs1540941	0.86[ASN][1000 genomes]
rs1623002	0.83[ASN][1000 genomes]
rs1743932	0.86[ASN][1000 genomes]
rs1743933	0.90[ASN][1000 genomes]
rs1743935	0.95[ASN][1000 genomes]
rs1763514	0.95[ASN][1000 genomes]
rs1763517	0.90[ASN][1000 genomes]
rs1763518	0.86[ASN][1000 genomes]
rs1763531	1.00[ASN][1000 genomes]
rs2027175	0.83[ASN][1000 genomes]
rs2181171	0.86[ASN][1000 genomes]
rs2758145	0.85[CHD][hapmap]
rs2811691	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2811693	0.99[ASN][1000 genomes]
rs34441352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4318899	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4645436	1.00[ASN][1000 genomes]
rs6927548	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];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	nsv492292	chr6:134464255-135028540	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2811690	ALDH8A1	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:134468000-134468600	Flanking Active TSS	K562	blood
2	chr6:134468000-134469800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr6:134468000-134470000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr6:134468400-134468800	Enhancers	HSMMtube	muscle

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