Variant report

Variant	rs4706742
Chromosome Location	chr6:79615550-79615551
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	chr6:79615075..79617468-chr6:79943331..79946012,2	K562	blood:

Variant related genes	Relation type
ENSG00000270362	Chromatin interaction
ENSG00000118418	Chromatin interaction

Extended variants
information (count: 129 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:128)

rs_ID	r²[population]
rs1027813	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1044309	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10455356	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10755377	0.93[ASN][1000 genomes]
rs10943600	0.99[ASN][1000 genomes]
rs10943605	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10943608	0.83[ASN][1000 genomes]
rs10943609	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10943613	0.91[ASN][1000 genomes]
rs11752126	0.89[ASN][1000 genomes]
rs11754419	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12153837	0.91[ASN][1000 genomes]
rs12193319	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12196457	0.93[ASN][1000 genomes]
rs12196485	0.85[ASN][1000 genomes]
rs12660770	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13191068	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13202531	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13204088	0.85[ASN][1000 genomes]
rs1354831	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1354832	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1538233	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1538235	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1547731	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1567167	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1572584	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1572585	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1890229	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1960542	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1984195	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2050659	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2050660	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2050661	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2050662	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2063123	0.85[ASN][1000 genomes]
rs2095724	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2105143	0.90[ASN][1000 genomes]
rs2152951	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2174739	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2174742	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2174743	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2874643	0.85[ASN][1000 genomes]
rs35887627	0.86[ASN][1000 genomes]
rs36128361	0.89[ASN][1000 genomes]
rs3805747	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3902856	0.90[ASN][1000 genomes]
rs4147183	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4415132	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4421161	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4565265	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4706079	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4706080	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4706743	0.99[ASN][1000 genomes]
rs4706746	0.84[ASN][1000 genomes]
rs4706747	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55755815	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56057971	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6454092	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6912683	0.89[EUR][1000 genomes]
rs6915558	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6926537	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6937465	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6940637	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7741943	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7742034	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7742431	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7753358	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7756858	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7760866	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9341754	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9343843	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9343844	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9343848	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9343856	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9343860	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9343861	0.90[ASN][1000 genomes]
rs9343863	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9350792	0.93[ASN][1000 genomes]
rs9350794	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9350799	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9350800	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9352663	0.85[ASN][1000 genomes]
rs9352664	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9352665	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9352666	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9352667	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9352669	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9352670	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9352675	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9352676	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9352683	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9352686	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9352691	0.84[ASN][1000 genomes]
rs9359354	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9359359	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9359360	0.89[ASN][1000 genomes]
rs9359362	0.86[ASN][1000 genomes]
rs9361451	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9361454	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9361455	0.85[ASN][1000 genomes]
rs9361460	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9361462	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9361466	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9361467	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9361472	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9361477	0.89[ASN][1000 genomes]
rs9361480	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9361482	0.89[ASN][1000 genomes]
rs9361488	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9443621	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9443622	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9443626	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9443632	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9443637	0.91[ASN][1000 genomes]
rs9443638	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9443643	0.83[EUR][1000 genomes]
rs9448580	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9448584	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9448587	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9448588	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9448590	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9448591	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9448596	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9448597	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9448607	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9448610	0.91[ASN][1000 genomes]
rs946022	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs971994	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[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
rs4706742	IRAK1BP1	cis	Heart Left Ventricle	GTEx
rs4706742	IRAK1BP1	cis	Artery Aorta	GTEx
rs4706742	IRAK1BP1	cis	Artery Tibial	GTEx

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:79578400-79619800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr6:79578400-79620000	Weak transcription	Right Ventricle	heart
3	chr6:79578600-79618200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:79585200-79619600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr6:79585200-79620200	Weak transcription	Fetal Lung	lung
6	chr6:79588000-79619800	Weak transcription	Fetal Brain Female	brain
7	chr6:79588200-79616400	Weak transcription	Primary T cells from cord blood	blood
8	chr6:79589600-79618200	Weak transcription	Aorta	Aorta
9	chr6:79589600-79619800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:79589800-79620200	Weak transcription	Fetal Brain Male	brain
11	chr6:79592600-79620200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr6:79596800-79618600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:79597000-79620000	Weak transcription	Fetal Kidney	kidney
14	chr6:79597400-79619800	Weak transcription	Ovary	ovary
15	chr6:79600200-79619600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr6:79604600-79619200	Weak transcription	Fetal Heart	heart
17	chr6:79605000-79619200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr6:79605200-79619800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr6:79606200-79620200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr6:79606400-79620200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr6:79606800-79620200	Weak transcription	Fetal Muscle Leg	muscle
22	chr6:79607200-79618200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr6:79607200-79619600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr6:79608000-79620200	Weak transcription	Brain Substantia Nigra	brain
25	chr6:79608400-79619000	Weak transcription	Fetal Thymus	thymus
26	chr6:79609000-79619000	Weak transcription	Adipose Nuclei	Adipose
27	chr6:79609200-79615600	Weak transcription	Dnd41	blood
28	chr6:79609200-79617200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr6:79609200-79619200	Weak transcription	Fetal Intestine Large	intestine
30	chr6:79609400-79619800	Weak transcription	Primary B cells from cord blood	blood
31	chr6:79609400-79619800	Weak transcription	Left Ventricle	heart
32	chr6:79609400-79620000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr6:79609400-79620200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr6:79610400-79619800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr6:79610600-79620200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr6:79610800-79617000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr6:79610800-79617400	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr6:79612600-79619800	Weak transcription	Pancreas	Pancrea
39	chr6:79613000-79620200	Weak transcription	Fetal Stomach	stomach
40	chr6:79613200-79619200	Weak transcription	Fetal Intestine Small	intestine
41	chr6:79613600-79616600	Enhancers	HSMM	muscle
42	chr6:79613800-79615600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr6:79613800-79616600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr6:79614000-79616400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr6:79614000-79620200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr6:79614200-79617000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr6:79614200-79618200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr6:79614200-79618400	Weak transcription	NHEK	skin
49	chr6:79614200-79618600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr6:79614200-79618800	Weak transcription	HSMMtube	muscle

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