Variant report

Variant	rs2026083
Chromosome Location	chr1:57450945-57450946
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11206942	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11206954	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11206955	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11206958	0.82[ASN][1000 genomes]
rs11810899	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12035887	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12036280	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12062362	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12082861	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12118564	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12144161	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1329448	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1329451	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs17114695	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17114816	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1831871	0.93[ASN][1000 genomes]
rs1854508	0.92[ASN][1000 genomes]
rs3738558	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3754268	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3768201	0.82[ASN][1000 genomes]
rs3768202	0.82[ASN][1000 genomes]
rs3768203	0.82[ASN][1000 genomes]
rs3768204	0.82[ASN][1000 genomes]
rs3768205	0.82[ASN][1000 genomes]
rs3768206	0.82[ASN][1000 genomes]
rs3768209	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3768211	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3820579	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3820581	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4912233	0.82[ASN][1000 genomes]
rs4912420	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4912422	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4912423	0.81[ASN][1000 genomes]
rs6668180	0.93[ASN][1000 genomes]
rs6668269	0.90[ASN][1000 genomes]
rs6676740	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6679906	0.91[ASN][1000 genomes]
rs697580	0.94[ASN][1000 genomes]
rs706353	0.91[ASN][1000 genomes]
rs706357	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs706360	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs706361	0.87[AMR][1000 genomes]
rs706364	0.82[ASN][1000 genomes]
rs72917455	0.99[ASN][1000 genomes]
rs7533953	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs835447	0.82[ASN][1000 genomes]
rs944923	0.92[ASN][1000 genomes]
rs952703	0.82[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2026083	C8B	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57440400-57452600	Weak transcription	Liver	Liver
2	chr1:57449200-57451200	Weak transcription	HepG2	liver
3	chr1:57449800-57451400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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