Variant report

Variant	rs13204088
Chromosome Location	chr6:79757438-79757439
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:79756212..79758553-chr6:79774479..79777418,2	K562	blood:
2	chr6:79752412..79754559-chr6:79755981..79758600,2	K562	blood:
3	chr6:79757174..79759129-chr6:79777129..79780838,3	K562	blood:
4	chr6:79744765..79747237-chr6:79756878..79759068,2	K562	blood:
5	chr6:79757003..79758754-chr6:79759344..79761825,2	K562	blood:
6	chr6:79755918..79758564-chr6:79949007..79951329,2	K562	blood:
7	chr6:79757003..79760013-chr6:79760325..79763644,4	K562	blood:

Variant related genes	Relation type
ENSG00000217512	Chromatin interaction

Extended variants
information (count: 99 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs1044309	0.91[ASN][1000 genomes]
rs10455356	0.88[ASN][1000 genomes]
rs10755377	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10943600	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10943605	0.88[ASN][1000 genomes]
rs10943608	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10943609	0.90[ASN][1000 genomes]
rs10943613	0.93[ASN][1000 genomes]
rs10943616	0.80[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs11752126	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11754419	0.94[ASN][1000 genomes]
rs12196457	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12660770	0.91[ASN][1000 genomes]
rs13191068	0.94[ASN][1000 genomes]
rs13202531	0.81[ASN][1000 genomes]
rs1354831	0.85[ASN][1000 genomes]
rs1354832	0.85[ASN][1000 genomes]
rs1413968	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1413969	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1415859	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1538233	0.93[ASN][1000 genomes]
rs1538235	0.91[ASN][1000 genomes]
rs1547731	0.98[ASN][1000 genomes]
rs1572584	0.92[ASN][1000 genomes]
rs1572585	0.94[ASN][1000 genomes]
rs1890229	0.92[ASN][1000 genomes]
rs1984195	0.90[ASN][1000 genomes]
rs2050659	0.93[ASN][1000 genomes]
rs2050660	0.90[ASN][1000 genomes]
rs2050661	0.90[ASN][1000 genomes]
rs2050662	0.98[ASN][1000 genomes]
rs2063123	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2095724	0.94[ASN][1000 genomes]
rs2105143	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2152951	0.98[ASN][1000 genomes]
rs2174739	0.88[ASN][1000 genomes]
rs2174742	0.85[ASN][1000 genomes]
rs35887627	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36128361	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3805747	0.89[ASN][1000 genomes]
rs3902856	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4565265	0.94[ASN][1000 genomes]
rs4706079	0.85[ASN][1000 genomes]
rs4706080	0.98[ASN][1000 genomes]
rs4706742	0.85[ASN][1000 genomes]
rs4706743	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4706746	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4706747	0.94[ASN][1000 genomes]
rs55755815	0.85[ASN][1000 genomes]
rs56057971	0.85[ASN][1000 genomes]
rs6454092	0.91[ASN][1000 genomes]
rs6915558	0.98[ASN][1000 genomes]
rs6940637	0.94[ASN][1000 genomes]
rs7741943	0.90[ASN][1000 genomes]
rs7742034	0.94[ASN][1000 genomes]
rs7742431	0.88[ASN][1000 genomes]
rs7753531	0.89[ASN][1000 genomes]
rs7756858	0.90[ASN][1000 genomes]
rs7760866	0.88[ASN][1000 genomes]
rs9343848	0.88[ASN][1000 genomes]
rs9343856	0.89[ASN][1000 genomes]
rs9343860	0.94[ASN][1000 genomes]
rs9343861	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9343863	0.96[ASN][1000 genomes]
rs9343870	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9350792	0.80[ASN][1000 genomes]
rs9350794	0.90[ASN][1000 genomes]
rs9350799	0.93[ASN][1000 genomes]
rs9350800	0.94[ASN][1000 genomes]
rs9352675	0.85[ASN][1000 genomes]
rs9352676	0.88[ASN][1000 genomes]
rs9352683	0.94[ASN][1000 genomes]
rs9352686	0.98[ASN][1000 genomes]
rs9352691	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9352694	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9359359	0.93[ASN][1000 genomes]
rs9359360	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9359362	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9359364	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9361466	0.90[ASN][1000 genomes]
rs9361467	0.88[ASN][1000 genomes]
rs9361477	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9361480	0.94[ASN][1000 genomes]
rs9361482	0.94[ASN][1000 genomes]
rs9361488	0.96[ASN][1000 genomes]
rs9443626	0.90[ASN][1000 genomes]
rs9443632	0.90[ASN][1000 genomes]
rs9443637	0.93[ASN][1000 genomes]
rs9443638	0.93[ASN][1000 genomes]
rs9443643	0.91[ASN][1000 genomes]
rs9443645	0.86[ASN][1000 genomes]
rs9448590	0.85[ASN][1000 genomes]
rs9448591	0.85[ASN][1000 genomes]
rs9448596	0.90[ASN][1000 genomes]
rs9448607	0.93[ASN][1000 genomes]
rs9448610	0.93[ASN][1000 genomes]
rs946022	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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13204088	IRAK1BP1	cis	Skin Sun Exposed Lower leg	GTEx
rs13204088	IRAK1BP1	cis	Artery Tibial	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	chr6:79707400-79786000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:79707400-79786600	Weak transcription	Esophagus	oesophagus
5	chr6:79708800-79769600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:79710800-79774600	Weak transcription	Psoas Muscle	Psoas
7	chr6:79717200-79765600	Weak transcription	Colon Smooth Muscle	Colon
8	chr6:79724600-79765200	Weak transcription	Stomach Mucosa	stomach
9	chr6:79726000-79765800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr6:79726600-79766200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr6:79727000-79767800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr6:79727600-79761800	Weak transcription	Fetal Brain Male	brain
13	chr6:79730000-79786600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr6:79730600-79776600	Weak transcription	Aorta	Aorta
15	chr6:79732200-79774600	Weak transcription	Gastric	stomach
16	chr6:79733000-79761800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:79733000-79765800	Weak transcription	Lung	lung
18	chr6:79733200-79761800	Weak transcription	Thymus	Thymus
19	chr6:79733600-79765200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr6:79733800-79759800	Weak transcription	HMEC	breast
21	chr6:79734000-79768000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr6:79734800-79758400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr6:79736000-79773600	Weak transcription	Brain Hippocampus Middle	brain
24	chr6:79736200-79762000	Weak transcription	Brain Anterior Caudate	brain
25	chr6:79739000-79780000	Weak transcription	NHLF	lung
26	chr6:79739400-79769400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr6:79741000-79761800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr6:79742000-79785400	Weak transcription	HSMMtube	muscle
29	chr6:79742400-79760800	Weak transcription	NH-A	brain
30	chr6:79742400-79765200	Weak transcription	Small Intestine	intestine
31	chr6:79742600-79773800	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr6:79743400-79759600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr6:79743400-79769600	Weak transcription	NHEK	skin
34	chr6:79745800-79761800	Weak transcription	Osteobl	bone
35	chr6:79747200-79760800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr6:79748200-79761800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr6:79748200-79761800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr6:79748200-79761800	Weak transcription	Ovary	ovary
39	chr6:79748200-79774000	Weak transcription	Fetal Heart	heart
40	chr6:79748200-79774400	Weak transcription	Rectal Smooth Muscle	rectum
41	chr6:79748400-79760600	Weak transcription	Fetal Brain Female	brain
42	chr6:79748400-79761800	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr6:79748400-79761800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr6:79748400-79762000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr6:79748800-79760600	Weak transcription	Liver	Liver
46	chr6:79749200-79761800	Weak transcription	Duodenum Mucosa	Duodenum
47	chr6:79749200-79761800	Weak transcription	Fetal Kidney	kidney
48	chr6:79749200-79765600	Weak transcription	Brain Cingulate Gyrus	brain
49	chr6:79749600-79760600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr6:79749600-79761800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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