Variant report

Variant	rs9448580
Chromosome Location	chr6:79551812-79551813
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 102 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs1027813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1044309	0.90[EUR][1000 genomes]
rs10455356	0.90[EUR][1000 genomes]
rs10943596	0.83[ASN][1000 genomes]
rs10943600	0.81[ASN][1000 genomes]
rs10943605	0.90[EUR][1000 genomes]
rs10943609	0.90[EUR][1000 genomes]
rs11754419	0.84[EUR][1000 genomes]
rs12153837	0.88[ASN][1000 genomes]
rs12193319	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12196485	0.93[ASN][1000 genomes]
rs12660770	0.90[EUR][1000 genomes]
rs13191068	0.85[EUR][1000 genomes]
rs13202531	0.84[EUR][1000 genomes]
rs1354831	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1354832	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1538233	0.84[EUR][1000 genomes]
rs1538235	0.87[EUR][1000 genomes]
rs1567167	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1572584	0.87[EUR][1000 genomes]
rs1572585	0.87[EUR][1000 genomes]
rs1890229	0.87[EUR][1000 genomes]
rs1960542	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1984195	0.89[EUR][1000 genomes]
rs2050659	0.84[EUR][1000 genomes]
rs2050660	0.84[EUR][1000 genomes]
rs2050661	0.90[EUR][1000 genomes]
rs2050662	0.83[EUR][1000 genomes]
rs2095724	0.85[EUR][1000 genomes]
rs2174739	0.90[EUR][1000 genomes]
rs2174742	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2174743	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2874643	0.93[ASN][1000 genomes]
rs3805747	0.90[EUR][1000 genomes]
rs4147183	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4415132	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4421161	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4565265	0.85[EUR][1000 genomes]
rs4706079	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4706742	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4706743	0.81[ASN][1000 genomes]
rs4706747	0.86[EUR][1000 genomes]
rs55755815	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56057971	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6454092	0.85[EUR][1000 genomes]
rs6912683	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6926537	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6937465	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6940637	0.85[EUR][1000 genomes]
rs7741943	0.87[EUR][1000 genomes]
rs7742034	0.84[EUR][1000 genomes]
rs7742431	0.83[EUR][1000 genomes]
rs7753358	0.85[EUR][1000 genomes]
rs7756858	0.91[EUR][1000 genomes]
rs7760866	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9341754	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9343843	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9343844	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9343848	0.90[EUR][1000 genomes]
rs9343856	0.89[EUR][1000 genomes]
rs9343860	0.83[EUR][1000 genomes]
rs9343863	0.83[EUR][1000 genomes]
rs9350792	0.87[ASN][1000 genomes]
rs9350794	0.91[EUR][1000 genomes]
rs9350800	0.85[EUR][1000 genomes]
rs9352662	0.88[ASN][1000 genomes]
rs9352663	0.93[ASN][1000 genomes]
rs9352664	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9352665	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9352666	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9352667	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9352669	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9352670	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9352675	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9352676	0.91[EUR][1000 genomes]
rs9352683	0.85[EUR][1000 genomes]
rs9359354	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9361451	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9361454	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9361455	0.93[ASN][1000 genomes]
rs9361460	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9361462	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9361466	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9361467	0.90[EUR][1000 genomes]
rs9361472	0.85[EUR][1000 genomes]
rs9361480	0.86[EUR][1000 genomes]
rs9443621	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9443622	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9443626	0.91[EUR][1000 genomes]
rs9443632	0.90[EUR][1000 genomes]
rs9443638	0.86[EUR][1000 genomes]
rs9448584	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9448587	0.93[EUR][1000 genomes]
rs9448588	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9448590	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9448591	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9448596	0.91[EUR][1000 genomes]
rs9448597	0.88[EUR][1000 genomes]
rs946022	0.90[EUR][1000 genomes]
rs971994	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[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	nsv1015352	chr6:79521820-79757024	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	esv1839807	chr6:79532610-79606615	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9448580	IRAK1BP1	cis	Artery Aorta	GTEx
rs9448580	IRAK1BP1	cis	Artery Tibial	GTEx

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:79550600-79552800	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr6:79550600-79554000	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr6:79550600-79554000	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr6:79551200-79552200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr6:79551200-79554000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr6:79551400-79552600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr6:79551600-79552200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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