Variant report

Variant	rs9443632
Chromosome Location	chr6:79664440-79664441
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:79654888..79657549-chr6:79663187..79666105,2	K562	blood:

Extended variants
information (count: 131 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:129)

rs_ID	r²[population]
rs1027813	0.90[EUR][1000 genomes]
rs1044309	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10455356	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10755377	0.88[ASN][1000 genomes]
rs10943600	0.85[ASN][1000 genomes]
rs10943605	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10943608	0.97[ASN][1000 genomes]
rs10943609	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10943613	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11752126	0.94[ASN][1000 genomes]
rs11754419	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12193319	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12196457	0.88[ASN][1000 genomes]
rs12660770	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13191068	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13202531	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13204088	0.90[ASN][1000 genomes]
rs1354831	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1354832	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1413968	0.81[ASN][1000 genomes]
rs1413969	0.81[ASN][1000 genomes]
rs1415859	0.83[ASN][1000 genomes]
rs1538233	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1538235	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1547731	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1567167	0.91[EUR][1000 genomes]
rs1572584	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1572585	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1890229	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1960542	0.91[EUR][1000 genomes]
rs1984195	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2050659	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2050660	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2050661	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2050662	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2063123	0.99[ASN][1000 genomes]
rs2095724	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2105143	0.94[ASN][1000 genomes]
rs2152951	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2174739	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2174742	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2174743	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35887627	0.91[ASN][1000 genomes]
rs36128361	0.94[ASN][1000 genomes]
rs3805747	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3902856	0.94[ASN][1000 genomes]
rs4147183	0.91[EUR][1000 genomes]
rs4415132	0.91[EUR][1000 genomes]
rs4421161	0.92[EUR][1000 genomes]
rs4565265	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4706079	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4706080	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4706742	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4706743	0.85[ASN][1000 genomes]
rs4706746	0.98[ASN][1000 genomes]
rs4706747	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55755815	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56057971	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6454092	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6912683	0.87[EUR][1000 genomes]
rs6915558	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6926537	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6937465	0.93[EUR][1000 genomes]
rs6940637	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7741943	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7742034	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7742431	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7753358	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7753531	0.81[ASN][1000 genomes]
rs7756858	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7760866	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9341754	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9343843	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9343844	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9343848	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9343856	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9343860	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9343861	0.94[ASN][1000 genomes]
rs9343863	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9343870	0.83[ASN][1000 genomes]
rs9350794	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9350799	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9350800	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9352664	0.92[EUR][1000 genomes]
rs9352665	0.92[EUR][1000 genomes]
rs9352666	0.92[EUR][1000 genomes]
rs9352667	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9352669	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9352670	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9352675	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9352676	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9352683	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9352686	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9352691	0.88[ASN][1000 genomes]
rs9352694	0.81[ASN][1000 genomes]
rs9359354	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9359359	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9359360	0.94[ASN][1000 genomes]
rs9359362	0.91[ASN][1000 genomes]
rs9359364	0.83[ASN][1000 genomes]
rs9361451	0.91[EUR][1000 genomes]
rs9361454	0.92[EUR][1000 genomes]
rs9361460	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9361462	0.92[EUR][1000 genomes]
rs9361466	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9361467	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9361472	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9361477	0.94[ASN][1000 genomes]
rs9361480	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9361482	0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs9361488	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9443621	0.91[EUR][1000 genomes]
rs9443622	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9443626	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9443637	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9443638	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9443643	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9448580	0.90[EUR][1000 genomes]
rs9448584	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9448587	0.95[EUR][1000 genomes]
rs9448588	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9448590	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9448591	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9448596	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9448597	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9448607	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9448610	0.94[ASN][1000 genomes]
rs946022	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs971994	0.91[EUR][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	nsv830705	chr6:79659297-79829530	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9443632	IRAK1BP1	cis	Artery Tibial	GTEx
rs9443632	IRAK1BP1	cis	Heart Left Ventricle	GTEx
rs9443632	IRAK1BP1	cis	Artery Aorta	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:79648000-79681200	Strong transcription	Primary T helper cells fromperipheralblood	blood
2	chr6:79648800-79714400	Weak transcription	Gastric	stomach
3	chr6:79649000-79666200	Strong transcription	Rectal Mucosa Donor 29	rectum
4	chr6:79649000-79715200	Weak transcription	Stomach Mucosa	stomach
5	chr6:79649600-79681400	Strong transcription	Primary T cells fromperipheralblood	blood
6	chr6:79650400-79666200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr6:79655400-79666000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr6:79658000-79664600	Strong transcription	Skeletal Muscle Male	skeletal muscle
9	chr6:79658000-79665400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:79658400-79664800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:79658600-79665400	Strong transcription	Osteobl	bone
12	chr6:79658600-79695000	Weak transcription	Pancreas	Pancrea
13	chr6:79658800-79664600	Strong transcription	Fetal Kidney	kidney
14	chr6:79658800-79681200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:79659000-79680000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr6:79659200-79664800	Strong transcription	Colon Smooth Muscle	Colon
17	chr6:79659200-79665800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:79659200-79674600	Weak transcription	NHLF	lung
19	chr6:79659200-79680600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:79659200-79681400	Strong transcription	Adipose Nuclei	Adipose
21	chr6:79659200-79702800	Weak transcription	Psoas Muscle	Psoas
22	chr6:79659400-79665800	Strong transcription	HUVEC	blood vessel
23	chr6:79659400-79666200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr6:79659400-79666200	Strong transcription	Duodenum Mucosa	Duodenum
25	chr6:79659400-79672600	Weak transcription	Brain Angular Gyrus	brain
26	chr6:79659400-79674400	Weak transcription	Colonic Mucosa	Colon
27	chr6:79659400-79675000	Weak transcription	NHEK	skin
28	chr6:79659400-79680400	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr6:79659400-79680600	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr6:79659400-79681200	Strong transcription	Primary B cells from peripheral blood	blood
31	chr6:79659400-79681200	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr6:79659400-79681200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr6:79659400-79702400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr6:79659400-79707000	Weak transcription	Esophagus	oesophagus
35	chr6:79659600-79664600	Strong transcription	Fetal Brain Female	brain
36	chr6:79659600-79665000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr6:79659600-79665000	Strong transcription	HMEC	breast
38	chr6:79659600-79666000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr6:79659600-79666000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr6:79659600-79676200	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr6:79659600-79680600	Strong transcription	Primary T cells from cord blood	blood
42	chr6:79659600-79681000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr6:79659600-79681200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr6:79659600-79704000	Weak transcription	Lung	lung
45	chr6:79659600-79707000	Weak transcription	Spleen	Spleen
46	chr6:79659800-79665600	Strong transcription	Placenta	Placenta
47	chr6:79659800-79666000	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr6:79659800-79666000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr6:79659800-79666000	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr6:79659800-79666200	Strong transcription	H1 Cell Line	embryonic stem cell

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