Variant report

Variant	rs1547731
Chromosome Location	chr6:79776104-79776105
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:79759623..79761788-chr6:79773682..79776640,2	K562	blood:
2	chr6:79772283..79777542-chr6:79785063..79789352,10	MCF-7	breast:
3	chr6:79756212..79758553-chr6:79774479..79777418,2	K562	blood:

Variant related genes	Relation type
ENSG00000146247	Chromatin interaction

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

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

rs_ID	r²[population]
rs1044309	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10455356	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10755377	0.87[ASN][1000 genomes]
rs10943600	0.84[ASN][1000 genomes]
rs10943605	1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10943608	0.86[ASN][1000 genomes]
rs10943609	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10943613	0.92[ASN][1000 genomes]
rs10943616	0.87[ASN][1000 genomes]
rs11752126	0.92[ASN][1000 genomes]
rs11754419	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12193319	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12196457	0.87[ASN][1000 genomes]
rs12660770	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13191068	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13202531	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13204088	0.98[ASN][1000 genomes]
rs1354831	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1354832	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1413968	0.91[ASN][1000 genomes]
rs1413969	0.92[ASN][1000 genomes]
rs1415859	0.93[ASN][1000 genomes]
rs1538233	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1538235	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1572584	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1572585	1.00[CEU][hapmap];0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1890229	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1984195	1.00[CEU][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2050659	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2050660	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2050661	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2050662	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2050663	1.00[CEU][hapmap]
rs2063123	0.88[ASN][1000 genomes]
rs2095724	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2105143	0.93[ASN][1000 genomes]
rs2152951	1.00[CEU][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2174739	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2174742	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2174743	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs35887627	0.89[ASN][1000 genomes]
rs36128361	0.92[ASN][1000 genomes]
rs3805747	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3902856	0.93[ASN][1000 genomes]
rs4565265	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4706079	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4706080	1.00[CEU][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4706742	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4706743	0.84[ASN][1000 genomes]
rs4706746	0.87[ASN][1000 genomes]
rs4706747	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55755815	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56057971	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6454092	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6915558	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6940637	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7741943	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7742034	1.00[CEU][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7742431	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7753358	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7753531	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7756858	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7760866	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9341754	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9343843	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9343844	1.00[CEU][hapmap];0.85[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9343848	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9343856	1.00[CEU][hapmap];0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9343860	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9343861	0.93[ASN][1000 genomes]
rs9343863	0.96[CEU][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9343870	0.93[ASN][1000 genomes]
rs9350794	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9350799	0.92[ASN][1000 genomes]
rs9350800	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9352666	0.80[EUR][1000 genomes]
rs9352667	0.83[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs9352669	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs9352670	1.00[CEU][hapmap];0.85[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9352675	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9352676	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9352683	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9352686	1.00[CEU][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9352691	0.99[ASN][1000 genomes]
rs9352694	0.91[ASN][1000 genomes]
rs9359354	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs9359359	0.92[ASN][1000 genomes]
rs9359360	0.92[ASN][1000 genomes]
rs9359362	0.89[ASN][1000 genomes]
rs9359364	0.93[ASN][1000 genomes]
rs9361460	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs9361462	0.81[EUR][1000 genomes]
rs9361466	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9361467	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9361472	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9361477	0.92[ASN][1000 genomes]
rs9361480	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9361482	0.94[ASN][1000 genomes]
rs9361488	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9443621	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs9443622	0.82[EUR][1000 genomes]
rs9443626	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9443632	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9443637	0.92[ASN][1000 genomes]
rs9443638	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9443643	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9443645	0.81[CEU][hapmap];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9448584	0.83[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs9448587	0.83[EUR][1000 genomes]
rs9448588	0.83[EUR][1000 genomes]
rs9448590	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9448591	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9448596	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9448597	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs9448607	0.92[ASN][1000 genomes]
rs9448610	0.92[ASN][1000 genomes]
rs946022	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[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	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
2	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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1547731	IRAK1BP1	cis	Artery Aorta	GTEx
rs1547731	IRAK1BP1	cis	Heart Left Ventricle	GTEx
rs1547731	IRAK1BP1	cis	Artery Tibial	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:79704600-79786600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:79707400-79786000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:79707400-79786600	Weak transcription	Esophagus	oesophagus
4	chr6:79730000-79786600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:79730600-79776600	Weak transcription	Aorta	Aorta
6	chr6:79739000-79780000	Weak transcription	NHLF	lung
7	chr6:79742000-79785400	Weak transcription	HSMMtube	muscle
8	chr6:79755000-79785400	Weak transcription	Colonic Mucosa	Colon
9	chr6:79759600-79780200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr6:79760600-79785400	Weak transcription	Right Ventricle	heart
11	chr6:79760600-79786800	Weak transcription	Spleen	Spleen
12	chr6:79763200-79776600	Weak transcription	Fetal Intestine Small	intestine
13	chr6:79764000-79782200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:79766400-79782000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr6:79766600-79780600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:79768600-79780600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr6:79768600-79786400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr6:79769800-79785400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr6:79770400-79776600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr6:79770400-79776600	Weak transcription	Left Ventricle	heart
21	chr6:79770400-79776600	Weak transcription	NH-A	brain
22	chr6:79770400-79780000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr6:79770400-79780200	Weak transcription	Brain Germinal Matrix	brain
24	chr6:79770400-79780200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr6:79770400-79780200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr6:79770400-79780400	Weak transcription	Fetal Brain Female	brain
27	chr6:79770400-79780600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr6:79770400-79784400	Weak transcription	Fetal Brain Male	brain
29	chr6:79770400-79784600	Weak transcription	NHEK	skin
30	chr6:79770400-79784800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr6:79770400-79784800	Weak transcription	HMEC	breast
32	chr6:79770400-79785000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr6:79770400-79785400	Weak transcription	Thymus	Thymus
34	chr6:79770400-79786600	Weak transcription	Lung	lung
35	chr6:79770600-79777600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr6:79770600-79779600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr6:79770600-79779600	Weak transcription	HepG2	liver
38	chr6:79770600-79779800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr6:79770600-79780000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr6:79770600-79780000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr6:79770600-79780000	Weak transcription	Duodenum Mucosa	Duodenum
42	chr6:79770600-79780000	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr6:79770600-79780000	Weak transcription	HSMM	muscle
44	chr6:79770600-79780000	Weak transcription	NHDF-Ad	bronchial
45	chr6:79770600-79782000	Weak transcription	Fetal Intestine Large	intestine
46	chr6:79770600-79782000	Weak transcription	Placenta	Placenta
47	chr6:79770600-79782600	Weak transcription	A549	lung
48	chr6:79770600-79783800	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr6:79770600-79785000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr6:79770600-79785000	Weak transcription	Hela-S3	cervix

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