Variant report

Variant	rs72917455
Chromosome Location	chr1:57448623-57448624
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11206942	0.94[ASN][1000 genomes]
rs11206954	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11206955	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11206958	0.81[ASN][1000 genomes]
rs11810899	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12035887	0.95[ASN][1000 genomes]
rs12036280	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12062362	0.90[ASN][1000 genomes]
rs12082861	0.87[ASN][1000 genomes]
rs12118564	0.87[ASN][1000 genomes]
rs12144161	0.90[ASN][1000 genomes]
rs1329448	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1329451	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17114695	0.80[ASN][1000 genomes]
rs17114816	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1831871	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1854508	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2026083	0.99[ASN][1000 genomes]
rs3738558	0.90[ASN][1000 genomes]
rs3754268	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3768201	0.81[ASN][1000 genomes]
rs3768202	0.81[ASN][1000 genomes]
rs3768203	0.81[ASN][1000 genomes]
rs3768204	0.81[ASN][1000 genomes]
rs3768205	0.81[ASN][1000 genomes]
rs3768206	0.81[ASN][1000 genomes]
rs3768209	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3768211	0.94[ASN][1000 genomes]
rs3820579	0.90[ASN][1000 genomes]
rs3820581	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4912233	0.81[ASN][1000 genomes]
rs4912420	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4912422	0.86[ASN][1000 genomes]
rs4912423	0.80[ASN][1000 genomes]
rs6668180	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6668269	0.90[ASN][1000 genomes]
rs6676740	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6679906	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs697580	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs706353	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs706357	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs706360	0.90[ASN][1000 genomes]
rs706361	0.85[EUR][1000 genomes]
rs706364	0.81[ASN][1000 genomes]
rs7533953	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs835447	0.81[ASN][1000 genomes]
rs944923	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs952703	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats 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	nsv822731	chr1:57448358-57449388	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
3	esv2249607	chr1:57448545-57448996	Weak transcription	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72917455	C8B	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57440400-57452600	Weak transcription	Liver	Liver

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