Variant report

Variant	rs2330570
Chromosome Location	chr5:44531355-44531356
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 93 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10055724	0.95[ASN][1000 genomes]
rs10061166	0.93[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs10062760	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10512854	0.91[ASN][1000 genomes]
rs10941672	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10941673	0.91[EUR][1000 genomes]
rs1116180	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12108957	0.98[ASN][1000 genomes]
rs12109250	1.00[ASN][1000 genomes]
rs12186589	0.92[EUR][1000 genomes]
rs12187906	0.98[ASN][1000 genomes]
rs12188017	0.87[EUR][1000 genomes]
rs12188390	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12189214	0.86[ASN][1000 genomes]
rs13153459	0.98[ASN][1000 genomes]
rs13154743	0.98[ASN][1000 genomes]
rs13160582	1.00[ASN][1000 genomes]
rs13162578	0.93[ASN][1000 genomes]
rs13169165	0.98[ASN][1000 genomes]
rs13170860	0.98[ASN][1000 genomes]
rs13173094	0.98[ASN][1000 genomes]
rs13179281	0.95[ASN][1000 genomes]
rs13190489	0.98[ASN][1000 genomes]
rs13355269	0.92[EUR][1000 genomes]
rs13358061	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1482664	0.98[ASN][1000 genomes]
rs1482695	0.91[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs1531803	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1552184	0.98[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs16901868	0.87[EUR][1000 genomes]
rs16901870	0.93[ASN][1000 genomes]
rs16901871	0.86[ASN][1000 genomes]
rs16901875	0.93[ASN][1000 genomes]
rs16901883	0.96[ASN][1000 genomes]
rs17319592	0.86[EUR][1000 genomes]
rs1871950	0.88[EUR][1000 genomes]
rs2128431	0.87[EUR][1000 genomes]
rs28561538	0.91[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs34119371	0.93[ASN][1000 genomes]
rs34391578	0.95[ASN][1000 genomes]
rs35420014	0.97[ASN][1000 genomes]
rs35656601	0.95[ASN][1000 genomes]
rs3898543	1.00[ASN][1000 genomes]
rs56313556	0.89[EUR][1000 genomes]
rs56340528	0.98[ASN][1000 genomes]
rs56724254	0.97[ASN][1000 genomes]
rs57060529	0.98[ASN][1000 genomes]
rs57068965	0.93[ASN][1000 genomes]
rs57777873	0.87[EUR][1000 genomes]
rs58035824	0.86[ASN][1000 genomes]
rs58261355	0.87[EUR][1000 genomes]
rs58826391	0.88[EUR][1000 genomes]
rs59836876	1.00[ASN][1000 genomes]
rs60912459	0.87[EUR][1000 genomes]
rs61399521	0.88[EUR][1000 genomes]
rs6451764	0.93[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs67485736	0.98[ASN][1000 genomes]
rs67667620	0.98[ASN][1000 genomes]
rs6862324	0.98[ASN][1000 genomes]
rs6865011	0.93[ASN][1000 genomes]
rs6865230	0.93[ASN][1000 genomes]
rs6865330	0.93[ASN][1000 genomes]
rs6866555	0.98[ASN][1000 genomes]
rs6869262	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6870835	0.94[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs6883915	1.00[ASN][1000 genomes]
rs6884170	0.90[EUR][1000 genomes]
rs72748041	0.89[EUR][1000 genomes]
rs72748047	0.89[EUR][1000 genomes]
rs72748048	0.89[EUR][1000 genomes]
rs72748056	0.87[EUR][1000 genomes]
rs72748063	0.86[EUR][1000 genomes]
rs72748065	0.87[EUR][1000 genomes]
rs72748075	0.93[ASN][1000 genomes]
rs72748076	0.89[EUR][1000 genomes]
rs72748082	0.88[EUR][1000 genomes]
rs72748092	0.96[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs72750279	0.87[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs73752037	0.89[EUR][1000 genomes]
rs7706806	1.00[ASN][1000 genomes]
rs7713453	1.00[ASN][1000 genomes]
rs7727980	0.98[ASN][1000 genomes]
rs7730866	0.96[ASN][1000 genomes]
rs7733376	0.89[EUR][1000 genomes]
rs873475	0.98[ASN][1000 genomes]
rs922853	0.89[EUR][1000 genomes]
rs922854	0.89[EUR][1000 genomes]
rs922855	0.93[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs957739	0.90[EUR][1000 genomes]
rs960060	1.00[ASN][1000 genomes]
rs9686344	0.86[ASN][1000 genomes]
rs9765008	0.98[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	nsv830277	chr5:44383402-44566881	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2330570	LOC647121	Cis_chr	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:44520200-44537000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:44526000-44532800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:44526000-44539800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:44528200-44544800	Weak transcription	Fetal Lung	lung

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