Variant report

Variant	rs9343848
Chromosome Location	chr6:79621101-79621102
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 133 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:132)

rs_ID	r²[population]
rs1027813	0.90[EUR][1000 genomes]
rs1044309	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10455356	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10755377	0.95[ASN][1000 genomes]
rs10943600	0.95[ASN][1000 genomes]
rs10943605	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10943608	0.85[ASN][1000 genomes]
rs10943609	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10943613	0.93[ASN][1000 genomes]
rs11752126	0.91[ASN][1000 genomes]
rs11754419	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12153837	0.89[ASN][1000 genomes]
rs12193319	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12196457	0.95[ASN][1000 genomes]
rs12196485	0.83[ASN][1000 genomes]
rs12660770	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13191068	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13202531	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13204088	0.88[ASN][1000 genomes]
rs1354831	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1354832	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1415859	0.80[ASN][1000 genomes]
rs1538233	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1538235	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1547731	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1567167	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1572584	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1572585	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1890229	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1960542	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1984195	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2050659	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2050660	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2050661	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2050662	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2063123	0.88[ASN][1000 genomes]
rs2095724	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2105143	0.92[ASN][1000 genomes]
rs2152951	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2174739	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2174742	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2174743	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2874643	0.83[ASN][1000 genomes]
rs35887627	0.90[ASN][1000 genomes]
rs36128361	0.91[ASN][1000 genomes]
rs3805747	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3902856	0.92[ASN][1000 genomes]
rs4147183	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4415132	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4421161	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4565265	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4706079	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4706080	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4706742	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4706743	0.95[ASN][1000 genomes]
rs4706746	0.86[ASN][1000 genomes]
rs4706747	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55755815	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56057971	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6454092	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6912683	0.87[EUR][1000 genomes]
rs6915558	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6926537	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6937465	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6940637	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7741943	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7742034	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7742431	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7753358	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7753531	0.80[ASN][1000 genomes]
rs7756858	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7760866	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9341754	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9343843	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9343844	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9343856	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9343860	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9343861	0.92[ASN][1000 genomes]
rs9343863	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9343870	0.80[ASN][1000 genomes]
rs9350792	0.91[ASN][1000 genomes]
rs9350794	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9350799	0.93[ASN][1000 genomes]
rs9350800	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9352663	0.83[ASN][1000 genomes]
rs9352664	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9352665	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9352666	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9352667	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9352669	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9352670	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9352675	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9352676	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9352683	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9352686	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9352691	0.86[ASN][1000 genomes]
rs9359354	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9359359	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9359360	0.91[ASN][1000 genomes]
rs9359362	0.90[ASN][1000 genomes]
rs9359364	0.80[ASN][1000 genomes]
rs9361451	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9361454	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9361455	0.83[ASN][1000 genomes]
rs9361460	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9361462	0.92[EUR][1000 genomes]
rs9361466	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9361467	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9361472	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9361477	0.91[ASN][1000 genomes]
rs9361480	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9361482	0.91[ASN][1000 genomes]
rs9361488	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9443621	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9443622	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9443626	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9443632	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9443637	0.93[ASN][1000 genomes]
rs9443638	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9443643	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9448580	0.90[EUR][1000 genomes]
rs9448584	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9448587	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9448588	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9448590	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9448591	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9448596	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9448597	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9448607	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9448610	0.93[ASN][1000 genomes]
rs946022	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs971994	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9343848	IRAK1BP1	cis	Heart Left Ventricle	GTEx
rs9343848	IRAK1BP1	cis	Artery Tibial	GTEx
rs9343848	IRAK1BP1	cis	Artery Aorta	GTEx

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:79619200-79621600	Enhancers	Fetal Heart	heart
2	chr6:79619200-79625800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:79619800-79621200	Enhancers	Spleen	Spleen
4	chr6:79619800-79621400	Flanking Active TSS	NHEK	skin
5	chr6:79620000-79621200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
6	chr6:79620000-79621200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr6:79620000-79621200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:79620200-79621200	Active TSS	H9 Cell Line	embryonic stem cell
9	chr6:79620200-79621400	Flanking Active TSS	Duodenum Mucosa	Duodenum
10	chr6:79620400-79621200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr6:79620600-79621200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:79620600-79621200	Flanking Active TSS	NHDF-Ad	bronchial
13	chr6:79620800-79621200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:79620800-79621200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
15	chr6:79620800-79621200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
16	chr6:79620800-79621200	Flanking Active TSS	Brain Anterior Caudate	brain
17	chr6:79620800-79621200	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr6:79620800-79621200	Enhancers	Esophagus	oesophagus
19	chr6:79620800-79621200	Flanking Active TSS	Fetal Intestine Large	intestine
20	chr6:79620800-79621200	Flanking Active TSS	Fetal Intestine Small	intestine
21	chr6:79620800-79621200	Enhancers	Placenta	Placenta
22	chr6:79620800-79621200	Enhancers	HMEC	breast
23	chr6:79621000-79621200	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr6:79621000-79621200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
25	chr6:79621000-79621200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
26	chr6:79621000-79621200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr6:79621000-79621200	Enhancers	Muscle Satellite Cultured Cells	--
28	chr6:79621000-79621200	Enhancers	Adipose Nuclei	Adipose
29	chr6:79621000-79621200	Enhancers	Brain Cingulate Gyrus	brain
30	chr6:79621000-79621200	Flanking Active TSS	Osteobl	bone
31	chr6:79621000-79621400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:79621000-79621800	Weak transcription	Fetal Brain Female	brain
33	chr6:79621000-79625200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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