Variant report

Variant	rs13202531
Chromosome Location	chr6:79674262-79674263
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	chr6:79673203..79675519-chr6:79675684..79678479,2	K562	blood:

Extended variants
information (count: 119 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:117)

rs_ID	r²[population]
rs1027813	0.84[EUR][1000 genomes]
rs1044309	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10455356	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10943605	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10943608	0.84[ASN][1000 genomes]
rs10943609	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10943613	0.84[ASN][1000 genomes]
rs11752126	0.86[ASN][1000 genomes]
rs11754419	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12193319	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12660770	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13191068	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13204088	0.81[ASN][1000 genomes]
rs1354831	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1354832	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1538233	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1538235	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1547731	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1567167	0.85[EUR][1000 genomes]
rs1572584	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1572585	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1890229	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1960542	0.85[EUR][1000 genomes]
rs1984195	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2050659	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2050660	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2050661	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2050662	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2063123	0.87[ASN][1000 genomes]
rs2095724	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2105143	0.85[ASN][1000 genomes]
rs2152951	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2174739	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2174742	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2174743	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35887627	0.81[ASN][1000 genomes]
rs36128361	0.86[ASN][1000 genomes]
rs3805747	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3902856	0.85[ASN][1000 genomes]
rs4147183	0.85[EUR][1000 genomes]
rs4415132	0.85[EUR][1000 genomes]
rs4421161	0.86[EUR][1000 genomes]
rs4565265	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4706079	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4706080	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4706742	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4706746	0.85[ASN][1000 genomes]
rs4706747	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55755815	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56057971	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6454092	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6912683	0.82[EUR][1000 genomes]
rs6915558	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6926537	0.85[EUR][1000 genomes]
rs6937465	0.87[EUR][1000 genomes]
rs6940637	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7741943	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7742034	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7742431	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7753358	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7756858	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7760866	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9341754	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9343843	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9343844	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9343848	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9343856	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9343860	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9343861	0.85[ASN][1000 genomes]
rs9343863	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9350794	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9350799	0.84[ASN][1000 genomes]
rs9350800	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9352664	0.86[EUR][1000 genomes]
rs9352665	0.86[EUR][1000 genomes]
rs9352666	0.86[EUR][1000 genomes]
rs9352667	0.86[EUR][1000 genomes]
rs9352669	0.88[EUR][1000 genomes]
rs9352670	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9352675	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9352676	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9352683	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9352686	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9359354	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9359359	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9359360	0.86[ASN][1000 genomes]
rs9359362	0.81[ASN][1000 genomes]
rs9361451	0.85[EUR][1000 genomes]
rs9361454	0.86[EUR][1000 genomes]
rs9361460	0.89[EUR][1000 genomes]
rs9361462	0.89[EUR][1000 genomes]
rs9361466	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9361467	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9361472	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9361477	0.86[ASN][1000 genomes]
rs9361480	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9361482	0.83[ASN][1000 genomes]
rs9361488	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9443621	0.87[EUR][1000 genomes]
rs9443622	0.87[EUR][1000 genomes]
rs9443626	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9443632	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9443637	0.84[ASN][1000 genomes]
rs9443638	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9443643	0.81[AMR][1000 genomes]
rs9448580	0.84[EUR][1000 genomes]
rs9448584	0.86[EUR][1000 genomes]
rs9448587	0.89[EUR][1000 genomes]
rs9448588	0.89[EUR][1000 genomes]
rs9448590	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9448591	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9448596	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9448597	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9448607	0.84[ASN][1000 genomes]
rs9448610	0.84[ASN][1000 genomes]
rs946022	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs971994	0.85[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
rs13202531	IRAK1BP1	cis	Artery Tibial	GTEx
rs13202531	IRAK1BP1	cis	Heart Left Ventricle	GTEx
rs13202531	IRAK1BP1	cis	Thyroid	GTEx

Chromatin state (count:124 , 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	chr6:79649000-79715200	Weak transcription	Stomach Mucosa	stomach
4	chr6:79649600-79681400	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr6:79658600-79695000	Weak transcription	Pancreas	Pancrea
6	chr6:79658800-79681200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr6:79659000-79680000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:79659200-79674600	Weak transcription	NHLF	lung
9	chr6:79659200-79680600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:79659200-79681400	Strong transcription	Adipose Nuclei	Adipose
11	chr6:79659200-79702800	Weak transcription	Psoas Muscle	Psoas
12	chr6:79659400-79674400	Weak transcription	Colonic Mucosa	Colon
13	chr6:79659400-79675000	Weak transcription	NHEK	skin
14	chr6:79659400-79680400	Strong transcription	Skeletal Muscle Female	skeletal muscle
15	chr6:79659400-79680600	Strong transcription	Duodenum Smooth Muscle	Duodenum
16	chr6:79659400-79681200	Strong transcription	Primary B cells from peripheral blood	blood
17	chr6:79659400-79681200	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr6:79659400-79681200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr6:79659400-79702400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr6:79659400-79707000	Weak transcription	Esophagus	oesophagus
21	chr6:79659600-79676200	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr6:79659600-79680600	Strong transcription	Primary T cells from cord blood	blood
23	chr6:79659600-79681000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:79659600-79681200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr6:79659600-79704000	Weak transcription	Lung	lung
26	chr6:79659600-79707000	Weak transcription	Spleen	Spleen
27	chr6:79659800-79674800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:79659800-79681200	Strong transcription	Fetal Thymus	thymus
29	chr6:79659800-79681400	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr6:79659800-79681400	Strong transcription	Primary hematopoietic stem cells	blood
31	chr6:79659800-79681400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr6:79659800-79681400	Strong transcription	Liver	Liver
33	chr6:79659800-79681400	Strong transcription	Dnd41	blood
34	chr6:79659800-79684600	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr6:79659800-79702600	Weak transcription	Right Ventricle	heart
36	chr6:79659800-79703400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr6:79659800-79704000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr6:79659800-79707000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr6:79660000-79681400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr6:79660200-79681200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr6:79660200-79681200	Strong transcription	Primary B cells from cord blood	blood
42	chr6:79660600-79681200	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr6:79661200-79681400	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr6:79661800-79681200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr6:79662400-79681200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr6:79662400-79681400	Strong transcription	Fetal Intestine Large	intestine
47	chr6:79662800-79681400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:79663200-79681400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr6:79663200-79681400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr6:79663200-79687200	Weak transcription	Brain Hippocampus Middle	brain

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