Variant report

Variant	rs9361482
Chromosome Location	chr6:79750385-79750386
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:79746088..79747762-chr6:79748129..79751565,3	K562	blood:
2	chr6:79746081..79747588-chr6:79748129..79750558,2	K562	blood:
3	chr6:79748247..79750934-chr6:79754578..79757318,2	K562	blood:

Extended variants
information (count: 118 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs1044309	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.94[ASN][1000 genomes]
rs10455356	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10755377	0.91[ASN][1000 genomes]
rs10943600	0.88[ASN][1000 genomes]
rs10943605	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10943608	1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs10943609	0.92[ASN][1000 genomes]
rs10943613	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10943616	0.91[CHB][hapmap];0.81[ASN][1000 genomes]
rs11752126	0.95[ASN][1000 genomes]
rs11754419	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12153837	0.81[ASN][1000 genomes]
rs12193319	0.82[ASN][1000 genomes]
rs12196457	0.91[ASN][1000 genomes]
rs12660770	0.93[ASN][1000 genomes]
rs13191068	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13202531	0.83[ASN][1000 genomes]
rs13204088	0.94[ASN][1000 genomes]
rs1354831	0.91[ASN][1000 genomes]
rs1354832	0.89[ASN][1000 genomes]
rs1413968	0.85[ASN][1000 genomes]
rs1413969	0.86[ASN][1000 genomes]
rs1415859	0.87[ASN][1000 genomes]
rs1538233	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1538235	1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1547731	0.94[ASN][1000 genomes]
rs1572584	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1572585	0.95[CHB][hapmap];0.88[JPT][hapmap];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1890229	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1984195	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2050659	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2050660	0.95[CHB][hapmap];0.94[JPT][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2050661	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.92[ASN][1000 genomes]
rs2050662	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2050663	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2063123	0.91[ASN][1000 genomes]
rs2095724	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2105143	1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs2152951	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2174739	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2174742	0.91[ASN][1000 genomes]
rs2174743	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs35887627	0.92[ASN][1000 genomes]
rs36128361	0.95[ASN][1000 genomes]
rs3805747	1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs3902856	1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs4565265	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4706079	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4706080	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4706742	0.89[ASN][1000 genomes]
rs4706743	1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs4706746	0.90[ASN][1000 genomes]
rs4706747	1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs55755815	0.89[ASN][1000 genomes]
rs56057971	0.91[ASN][1000 genomes]
rs6454092	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6915558	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6940637	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7741943	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7742034	1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7742431	0.94[ASN][1000 genomes]
rs7753531	0.91[CEU][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7756858	0.95[ASN][1000 genomes]
rs7760866	0.94[ASN][1000 genomes]
rs9341754	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9343843	0.82[ASN][1000 genomes]
rs9343844	1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs9343848	0.91[ASN][1000 genomes]
rs9343856	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs9343860	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9343861	1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs9343863	0.85[CHB][hapmap];0.89[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9343870	0.87[ASN][1000 genomes]
rs9350792	1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs9350794	0.95[ASN][1000 genomes]
rs9350799	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9350800	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9352667	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9352669	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs9352670	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9352675	0.89[ASN][1000 genomes]
rs9352676	0.91[ASN][1000 genomes]
rs9352683	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9352686	0.95[CHB][hapmap];0.89[JPT][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9352691	1.00[CHB][hapmap];0.93[JPT][hapmap];0.93[ASN][1000 genomes]
rs9352694	0.85[ASN][1000 genomes]
rs9359354	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs9359359	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9359360	1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs9359362	0.92[ASN][1000 genomes]
rs9359364	0.95[CHB][hapmap];0.87[ASN][1000 genomes]
rs9361460	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs9361466	0.95[ASN][1000 genomes]
rs9361467	0.91[ASN][1000 genomes]
rs9361472	0.82[ASN][1000 genomes]
rs9361477	1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs9361480	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9361488	0.92[ASN][1000 genomes]
rs9443621	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9443622	0.83[ASN][1000 genomes]
rs9443626	0.95[ASN][1000 genomes]
rs9443632	0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs9443637	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9443638	1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9443643	0.88[ASN][1000 genomes]
rs9443645	0.90[CHB][hapmap];0.83[ASN][1000 genomes]
rs9448584	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9448588	0.85[ASN][1000 genomes]
rs9448590	0.89[ASN][1000 genomes]
rs9448591	0.89[ASN][1000 genomes]
rs9448596	0.95[ASN][1000 genomes]
rs9448597	0.81[ASN][1000 genomes]
rs9448607	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9448610	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs946022	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv518477	chr6:79700159-79850427	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9361482	IRAK1BP1	cis	Artery Tibial	GTEx
rs9361482	IRAK1BP1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:79687600-79775000	Strong transcription	Dnd41	blood
2	chr6:79704600-79786600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:79707400-79755800	Weak transcription	Pancreas	Pancrea
4	chr6:79707400-79786000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:79707400-79786600	Weak transcription	Esophagus	oesophagus
6	chr6:79708800-79769600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:79710800-79774600	Weak transcription	Psoas Muscle	Psoas
8	chr6:79717200-79765600	Weak transcription	Colon Smooth Muscle	Colon
9	chr6:79724600-79765200	Weak transcription	Stomach Mucosa	stomach
10	chr6:79726000-79751400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr6:79726000-79765800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr6:79726600-79751800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr6:79726600-79766200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr6:79727000-79767800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr6:79727600-79761800	Weak transcription	Fetal Brain Male	brain
16	chr6:79728000-79753000	Weak transcription	Brain Germinal Matrix	brain
17	chr6:79730000-79786600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr6:79730600-79776600	Weak transcription	Aorta	Aorta
19	chr6:79732200-79774600	Weak transcription	Gastric	stomach
20	chr6:79732400-79756000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr6:79733000-79761800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:79733000-79765800	Weak transcription	Lung	lung
23	chr6:79733200-79751000	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr6:79733200-79761800	Weak transcription	Thymus	Thymus
25	chr6:79733600-79765200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr6:79733800-79759800	Weak transcription	HMEC	breast
27	chr6:79734000-79768000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr6:79734800-79758400	Weak transcription	Fetal Muscle Trunk	muscle
29	chr6:79736000-79773600	Weak transcription	Brain Hippocampus Middle	brain
30	chr6:79736200-79762000	Weak transcription	Brain Anterior Caudate	brain
31	chr6:79737200-79752600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr6:79737400-79752200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr6:79737800-79750400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr6:79739000-79780000	Weak transcription	NHLF	lung
35	chr6:79739400-79769400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr6:79741000-79761800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr6:79741600-79751000	Strong transcription	Primary B cells from peripheral blood	blood
38	chr6:79742000-79752800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr6:79742000-79785400	Weak transcription	HSMMtube	muscle
40	chr6:79742400-79760800	Weak transcription	NH-A	brain
41	chr6:79742400-79765200	Weak transcription	Small Intestine	intestine
42	chr6:79742600-79750800	Weak transcription	Left Ventricle	heart
43	chr6:79742600-79755800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr6:79742600-79773800	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr6:79743000-79750600	Weak transcription	A549	lung
46	chr6:79743400-79752000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr6:79743400-79759600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr6:79743400-79769600	Weak transcription	NHEK	skin
49	chr6:79743600-79753200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr6:79743800-79755600	Weak transcription	Fetal Muscle Leg	muscle

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