Variant report

Variant	rs1116180
Chromosome Location	chr5:44442943-44442944
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 92 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10055724	0.82[ASN][1000 genomes]
rs10061166	0.83[EUR][1000 genomes]
rs10062760	0.80[EUR][1000 genomes]
rs10941672	0.84[EUR][1000 genomes]
rs10941673	0.82[EUR][1000 genomes]
rs12108957	0.85[ASN][1000 genomes]
rs12109250	0.86[ASN][1000 genomes]
rs12186589	0.84[EUR][1000 genomes]
rs12187906	0.85[ASN][1000 genomes]
rs12188017	0.97[EUR][1000 genomes]
rs12188390	0.86[EUR][1000 genomes]
rs12189214	1.00[ASN][1000 genomes]
rs13153459	0.85[ASN][1000 genomes]
rs13154743	0.85[ASN][1000 genomes]
rs13160582	0.86[ASN][1000 genomes]
rs13162578	0.93[ASN][1000 genomes]
rs13169165	0.85[ASN][1000 genomes]
rs13170860	0.85[ASN][1000 genomes]
rs13173094	0.85[ASN][1000 genomes]
rs13179281	0.82[ASN][1000 genomes]
rs13190489	0.85[ASN][1000 genomes]
rs13355269	0.81[EUR][1000 genomes]
rs13358061	0.83[EUR][1000 genomes]
rs1482664	0.85[ASN][1000 genomes]
rs1482695	0.87[EUR][1000 genomes]
rs1531803	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1552184	0.87[EUR][1000 genomes]
rs16901868	0.93[EUR][1000 genomes]
rs16901870	0.93[ASN][1000 genomes]
rs16901871	0.86[ASN][1000 genomes]
rs16901875	0.93[ASN][1000 genomes]
rs16901883	0.90[ASN][1000 genomes]
rs17319592	0.94[EUR][1000 genomes]
rs1871950	0.96[EUR][1000 genomes]
rs2128431	0.93[EUR][1000 genomes]
rs2330570	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28561538	0.83[EUR][1000 genomes]
rs34119371	0.93[ASN][1000 genomes]
rs34391578	0.82[ASN][1000 genomes]
rs35420014	0.83[ASN][1000 genomes]
rs35656601	0.82[ASN][1000 genomes]
rs3898543	0.86[ASN][1000 genomes]
rs56313556	0.95[EUR][1000 genomes]
rs56340528	0.85[ASN][1000 genomes]
rs56724254	0.83[ASN][1000 genomes]
rs57060529	0.85[ASN][1000 genomes]
rs57068965	0.93[ASN][1000 genomes]
rs57777873	0.93[EUR][1000 genomes]
rs58035824	1.00[ASN][1000 genomes]
rs58261355	0.93[EUR][1000 genomes]
rs58826391	0.96[EUR][1000 genomes]
rs59836876	0.86[ASN][1000 genomes]
rs60912459	0.93[EUR][1000 genomes]
rs61399521	0.96[EUR][1000 genomes]
rs6451764	0.86[EUR][1000 genomes]
rs67485736	0.85[ASN][1000 genomes]
rs67667620	0.85[ASN][1000 genomes]
rs6862324	0.85[ASN][1000 genomes]
rs6865011	0.93[ASN][1000 genomes]
rs6865230	0.93[ASN][1000 genomes]
rs6865330	0.93[ASN][1000 genomes]
rs6866555	0.85[ASN][1000 genomes]
rs6869262	0.84[EUR][1000 genomes]
rs6870835	0.86[CEU][hapmap];0.91[EUR][1000 genomes]
rs6883915	0.86[ASN][1000 genomes]
rs6884170	0.94[EUR][1000 genomes]
rs72748041	0.95[EUR][1000 genomes]
rs72748047	0.95[EUR][1000 genomes]
rs72748048	0.95[EUR][1000 genomes]
rs72748056	0.93[EUR][1000 genomes]
rs72748063	0.92[EUR][1000 genomes]
rs72748065	0.93[EUR][1000 genomes]
rs72748075	0.93[ASN][1000 genomes]
rs72748076	0.95[EUR][1000 genomes]
rs72748082	0.92[EUR][1000 genomes]
rs72748092	0.87[EUR][1000 genomes]
rs72750279	0.82[EUR][1000 genomes]
rs73752037	0.95[EUR][1000 genomes]
rs7706806	0.86[ASN][1000 genomes]
rs7713453	0.86[ASN][1000 genomes]
rs7727980	0.85[ASN][1000 genomes]
rs7730866	0.90[ASN][1000 genomes]
rs7733376	0.95[EUR][1000 genomes]
rs873475	0.85[ASN][1000 genomes]
rs922853	0.95[EUR][1000 genomes]
rs922854	0.95[EUR][1000 genomes]
rs922855	0.86[CEU][hapmap];0.91[EUR][1000 genomes]
rs957739	0.94[EUR][1000 genomes]
rs960060	0.86[ASN][1000 genomes]
rs9765008	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv1024923	chr5:44439853-44528314	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1116180	LOC647121	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:44395200-44447400	Weak transcription	Fetal Lung	lung
2	chr5:44435200-44443600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:44441200-44443600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:44441800-44443400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr5:44442000-44443000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr5:44442000-44443200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr5:44442000-44443200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr5:44442000-44443200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr5:44442000-44446800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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