Variant report

Variant	rs12196457
Chromosome Location	chr6:79627743-79627744
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 123 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:122)

rs_ID	r²[population]
rs1044309	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs10455120	0.84[CEU][hapmap]
rs10455356	0.94[CHB][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs10755377	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10943596	0.87[EUR][1000 genomes]
rs10943600	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10943605	1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs10943608	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10943609	0.88[ASN][1000 genomes]
rs10943613	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs10943616	0.91[CHB][hapmap];0.85[YRI][hapmap]
rs11752126	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11754419	0.93[ASN][1000 genomes]
rs12153837	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12193319	0.85[ASN][1000 genomes]
rs12196485	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12660760	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs12660770	0.95[ASN][1000 genomes]
rs13191068	0.93[ASN][1000 genomes]
rs13204088	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1354831	0.91[ASN][1000 genomes]
rs1354832	0.93[ASN][1000 genomes]
rs1413968	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1413969	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1415859	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1538233	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs1538235	1.00[CHB][hapmap];0.80[JPT][hapmap];0.91[ASN][1000 genomes]
rs1547731	0.87[ASN][1000 genomes]
rs1572584	1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs1572585	0.95[CHB][hapmap];0.84[JPT][hapmap];0.92[ASN][1000 genomes]
rs1890229	1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs1984195	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs2050659	0.91[ASN][1000 genomes]
rs2050660	0.95[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs2050661	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs2050662	0.90[ASN][1000 genomes]
rs2050663	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2063123	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2095724	0.93[ASN][1000 genomes]
rs2105143	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2152951	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs2174739	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs2174742	0.91[ASN][1000 genomes]
rs2174743	1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs2321895	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2874643	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35887627	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs36128361	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3805747	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs3902856	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4565265	0.93[ASN][1000 genomes]
rs4706079	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs4706080	1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs4706742	0.93[ASN][1000 genomes]
rs4706743	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4706746	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4706747	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs55755815	0.93[ASN][1000 genomes]
rs56057971	0.91[ASN][1000 genomes]
rs6454092	0.90[ASN][1000 genomes]
rs6915558	0.90[ASN][1000 genomes]
rs6940637	0.92[ASN][1000 genomes]
rs7741943	0.88[ASN][1000 genomes]
rs7742034	1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs7742431	0.88[ASN][1000 genomes]
rs7753531	0.80[ASN][1000 genomes]
rs7756858	0.96[ASN][1000 genomes]
rs7760866	0.95[ASN][1000 genomes]
rs9341754	1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs9343843	0.85[ASN][1000 genomes]
rs9343844	1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs9343848	0.95[ASN][1000 genomes]
rs9343856	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs9343860	0.93[ASN][1000 genomes]
rs9343861	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9343863	0.86[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs9343870	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9350792	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9350794	0.96[ASN][1000 genomes]
rs9350799	0.93[ASN][1000 genomes]
rs9350800	0.93[ASN][1000 genomes]
rs9352663	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9352667	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs9352669	1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs9352670	1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs9352675	0.93[ASN][1000 genomes]
rs9352676	0.95[ASN][1000 genomes]
rs9352683	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs9352686	0.95[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs9352691	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9352694	0.80[ASN][1000 genomes]
rs9359354	1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs9359359	0.93[ASN][1000 genomes]
rs9359360	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9359362	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9359364	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9361455	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9361460	1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs9361466	0.96[ASN][1000 genomes]
rs9361467	0.95[ASN][1000 genomes]
rs9361472	0.85[ASN][1000 genomes]
rs9361477	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9361480	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs9361482	1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs9361488	0.85[ASN][1000 genomes]
rs9443621	1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs9443622	0.84[ASN][1000 genomes]
rs9443626	0.96[ASN][1000 genomes]
rs9443632	0.88[ASN][1000 genomes]
rs9443637	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs9443638	1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs9443643	0.81[ASN][1000 genomes]
rs9443645	0.90[CHB][hapmap]
rs9448584	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs9448588	0.85[ASN][1000 genomes]
rs9448590	0.93[ASN][1000 genomes]
rs9448591	0.93[ASN][1000 genomes]
rs9448596	0.96[ASN][1000 genomes]
rs9448597	0.84[ASN][1000 genomes]
rs9448607	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs9448610	1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs946022	0.87[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	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12196457	IRAK1BP1	cis	Artery Tibial	GTEx
rs12196457	IRAK1BP1	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:79621200-79627800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:79626000-79644000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:79627600-79627800	Weak transcription	Fetal Heart	heart
4	chr6:79627600-79627800	ZNF genes & repeats	HMEC	breast

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