Variant report

Variant	rs9448587
Chromosome Location	chr6:79589032-79589033
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 109 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs1027813	0.93[EUR][1000 genomes]
rs1044309	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10455356	0.95[EUR][1000 genomes]
rs10943596	0.81[ASN][1000 genomes]
rs10943600	0.83[ASN][1000 genomes]
rs10943605	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10943609	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11754419	0.91[EUR][1000 genomes]
rs12153837	0.88[ASN][1000 genomes]
rs12193319	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12196485	0.82[ASN][1000 genomes]
rs12660770	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13191068	0.90[EUR][1000 genomes]
rs13202531	0.89[EUR][1000 genomes]
rs1354831	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1354832	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1538233	0.89[EUR][1000 genomes]
rs1538235	0.92[EUR][1000 genomes]
rs1547731	0.83[EUR][1000 genomes]
rs1567167	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1572584	0.92[EUR][1000 genomes]
rs1572585	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1890229	0.92[EUR][1000 genomes]
rs1960542	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1984195	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2050659	0.91[EUR][1000 genomes]
rs2050660	0.91[EUR][1000 genomes]
rs2050661	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2050662	0.88[EUR][1000 genomes]
rs2095724	0.90[EUR][1000 genomes]
rs2152951	0.84[EUR][1000 genomes]
rs2174739	0.95[EUR][1000 genomes]
rs2174742	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2174743	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2874643	0.82[ASN][1000 genomes]
rs3805747	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4147183	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4415132	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4421161	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4565265	0.90[EUR][1000 genomes]
rs4706079	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4706080	0.83[EUR][1000 genomes]
rs4706742	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4706743	0.83[ASN][1000 genomes]
rs4706747	0.93[EUR][1000 genomes]
rs55755815	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56057971	0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6454092	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs6912683	0.90[EUR][1000 genomes]
rs6915558	0.83[EUR][1000 genomes]
rs6926537	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6937465	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6940637	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs7741943	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7742034	0.91[EUR][1000 genomes]
rs7742431	0.88[EUR][1000 genomes]
rs7753358	0.90[EUR][1000 genomes]
rs7756858	0.96[EUR][1000 genomes]
rs7760866	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9341754	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9343843	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9343844	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9343848	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9343856	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9343860	0.90[EUR][1000 genomes]
rs9343863	0.88[EUR][1000 genomes]
rs9350792	0.89[ASN][1000 genomes]
rs9350794	0.96[EUR][1000 genomes]
rs9350799	0.81[EUR][1000 genomes]
rs9350800	0.92[EUR][1000 genomes]
rs9352663	0.82[ASN][1000 genomes]
rs9352664	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9352665	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9352666	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9352667	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9352669	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9352670	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9352675	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9352676	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9352683	0.91[EUR][1000 genomes]
rs9352686	0.84[EUR][1000 genomes]
rs9359354	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9361451	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9361454	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9361455	0.82[ASN][1000 genomes]
rs9361460	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9361462	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9361466	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9361467	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9361472	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9361480	0.93[EUR][1000 genomes]
rs9361488	0.83[EUR][1000 genomes]
rs9443621	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9443622	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9443626	0.96[EUR][1000 genomes]
rs9443632	0.95[EUR][1000 genomes]
rs9443638	0.93[EUR][1000 genomes]
rs9443643	0.81[EUR][1000 genomes]
rs9448580	0.93[EUR][1000 genomes]
rs9448584	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9448588	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9448590	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9448591	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9448596	0.96[EUR][1000 genomes]
rs9448597	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs946022	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs971994	0.94[EUR][1000 genomes];0.83[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9448587	IRAK1BP1	cis	Artery Tibial	GTEx
rs9448587	IRAK1BP1	cis	Artery Aorta	GTEx
rs9448587	IRAK1BP1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:79577800-79597200	Weak transcription	Gastric	stomach
2	chr6:79578200-79589400	Weak transcription	Psoas Muscle	Psoas
3	chr6:79578200-79590800	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr6:79578200-79592400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr6:79578200-79592800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:79578200-79597800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr6:79578200-79608600	Weak transcription	Adipose Nuclei	Adipose
8	chr6:79578200-79608600	Weak transcription	Left Ventricle	heart
9	chr6:79578200-79613600	Weak transcription	HSMM	muscle
10	chr6:79578400-79589400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr6:79578400-79589400	Weak transcription	Fetal Brain Male	brain
12	chr6:79578400-79593400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr6:79578400-79613800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:79578400-79619800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr6:79578400-79620000	Weak transcription	Right Ventricle	heart
16	chr6:79578600-79593200	Weak transcription	NHEK	skin
17	chr6:79578600-79596000	Weak transcription	Fetal Heart	heart
18	chr6:79578600-79596600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr6:79578600-79598200	Weak transcription	HUVEC	blood vessel
20	chr6:79578600-79604800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr6:79578600-79612400	Weak transcription	Stomach Smooth Muscle	stomach
22	chr6:79578600-79618200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr6:79578800-79602800	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr6:79578800-79608600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr6:79578800-79613800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr6:79581800-79593600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr6:79582000-79596600	Weak transcription	Ovary	ovary
28	chr6:79582000-79608400	Weak transcription	Fetal Intestine Large	intestine
29	chr6:79584800-79608600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:79585200-79619600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr6:79585200-79620200	Weak transcription	Fetal Lung	lung
32	chr6:79587600-79607600	Weak transcription	Dnd41	blood
33	chr6:79587600-79611200	Weak transcription	Brain Anterior Caudate	brain
34	chr6:79587800-79608400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr6:79588000-79589200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr6:79588000-79589400	Weak transcription	Lung	lung
37	chr6:79588000-79596200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr6:79588000-79596600	Weak transcription	Fetal Kidney	kidney
39	chr6:79588000-79619800	Weak transcription	Fetal Brain Female	brain
40	chr6:79588200-79589200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr6:79588200-79589400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr6:79588200-79589400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:79588200-79589400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr6:79588200-79590200	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr6:79588200-79598600	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr6:79588200-79602000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr6:79588200-79611800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr6:79588200-79611800	Weak transcription	Pancreas	Pancrea
49	chr6:79588200-79612000	Weak transcription	Fetal Stomach	stomach
50	chr6:79588200-79616400	Weak transcription	Primary T cells from cord blood	blood

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