Variant report

Variant	rs2063123
Chromosome Location	chr6:79658535-79658536
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	chr6:79656082..79659327-chr6:79665132..79668845,3	K562	blood:

Extended variants
information (count: 104 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs1044309	0.91[ASN][1000 genomes]
rs10455356	0.98[ASN][1000 genomes]
rs10755377	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10943596	0.85[EUR][1000 genomes]
rs10943600	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10943605	0.98[ASN][1000 genomes]
rs10943608	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10943609	0.99[ASN][1000 genomes]
rs10943613	0.93[ASN][1000 genomes]
rs11752126	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11754419	0.94[ASN][1000 genomes]
rs12153837	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12196457	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12196485	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12660760	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12660770	0.91[ASN][1000 genomes]
rs13191068	0.94[ASN][1000 genomes]
rs13202531	0.87[ASN][1000 genomes]
rs13204088	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1354831	0.85[ASN][1000 genomes]
rs1354832	0.85[ASN][1000 genomes]
rs1413968	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1413969	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1415859	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1538233	0.93[ASN][1000 genomes]
rs1538235	0.91[ASN][1000 genomes]
rs1547731	0.88[ASN][1000 genomes]
rs1572584	0.92[ASN][1000 genomes]
rs1572585	0.94[ASN][1000 genomes]
rs1890229	0.92[ASN][1000 genomes]
rs1984195	0.99[ASN][1000 genomes]
rs2050659	0.93[ASN][1000 genomes]
rs2050660	0.90[ASN][1000 genomes]
rs2050661	0.99[ASN][1000 genomes]
rs2050662	0.91[ASN][1000 genomes]
rs2095724	0.94[ASN][1000 genomes]
rs2105143	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2152951	0.89[ASN][1000 genomes]
rs2174739	0.98[ASN][1000 genomes]
rs2174742	0.85[ASN][1000 genomes]
rs2321895	0.83[EUR][1000 genomes]
rs2874643	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35887627	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36128361	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3805747	0.98[ASN][1000 genomes]
rs3902856	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4565265	0.94[ASN][1000 genomes]
rs4706079	0.85[ASN][1000 genomes]
rs4706080	0.89[ASN][1000 genomes]
rs4706742	0.85[ASN][1000 genomes]
rs4706743	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4706746	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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	0.91[ASN][1000 genomes]
rs6940637	0.94[ASN][1000 genomes]
rs7741943	0.99[ASN][1000 genomes]
rs7742034	0.94[ASN][1000 genomes]
rs7742431	0.98[ASN][1000 genomes]
rs7753531	0.80[ASN][1000 genomes]
rs7756858	0.90[ASN][1000 genomes]
rs7760866	0.88[ASN][1000 genomes]
rs9343848	0.88[ASN][1000 genomes]
rs9343856	0.98[ASN][1000 genomes]
rs9343860	0.94[ASN][1000 genomes]
rs9343861	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9343863	0.93[ASN][1000 genomes]
rs9343870	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9350792	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9350794	0.90[ASN][1000 genomes]
rs9350799	0.93[ASN][1000 genomes]
rs9350800	0.94[ASN][1000 genomes]
rs9352663	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9352675	0.85[ASN][1000 genomes]
rs9352676	0.88[ASN][1000 genomes]
rs9352683	0.94[ASN][1000 genomes]
rs9352686	0.88[ASN][1000 genomes]
rs9352691	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9352694	0.82[ASN][1000 genomes]
rs9359359	0.93[ASN][1000 genomes]
rs9359360	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9359362	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9359364	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9361455	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9361466	0.90[ASN][1000 genomes]
rs9361467	0.88[ASN][1000 genomes]
rs9361477	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9361480	0.94[ASN][1000 genomes]
rs9361482	0.91[ASN][1000 genomes]
rs9361488	0.87[ASN][1000 genomes]
rs9443626	0.90[ASN][1000 genomes]
rs9443632	0.99[ASN][1000 genomes]
rs9443637	0.93[ASN][1000 genomes]
rs9443638	0.93[ASN][1000 genomes]
rs9443643	0.83[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	0.98[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2063123	IRAK1BP1	cis	Artery Tibial	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:79644000-79658600	Strong transcription	Dnd41	blood
2	chr6:79645600-79658600	Strong transcription	HUES64 Cell Line	embryonic stem cell
3	chr6:79646200-79659000	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr6:79648000-79658800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr6:79648000-79660600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr6:79648000-79681200	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr6:79648800-79658600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr6:79648800-79658600	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr6:79648800-79658600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:79648800-79658600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr6:79648800-79659000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr6:79648800-79714400	Weak transcription	Gastric	stomach
13	chr6:79649000-79666200	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr6:79649000-79715200	Weak transcription	Stomach Mucosa	stomach
15	chr6:79649200-79658600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr6:79649400-79658600	Strong transcription	Primary B cells from peripheral blood	blood
17	chr6:79649400-79659200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr6:79649600-79659000	Strong transcription	Fetal Thymus	thymus
19	chr6:79649600-79681400	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr6:79650000-79659200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr6:79650200-79658600	Strong transcription	Skeletal Muscle Female	skeletal muscle
22	chr6:79650200-79658800	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr6:79650400-79659800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr6:79650400-79666200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr6:79651600-79658600	Strong transcription	Primary T cells from cord blood	blood
26	chr6:79653200-79659600	Strong transcription	Rectal Smooth Muscle	rectum
27	chr6:79653400-79659400	Strong transcription	Colonic Mucosa	Colon
28	chr6:79653600-79658600	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr6:79654200-79658600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr6:79654200-79661000	Weak transcription	Fetal Heart	heart
31	chr6:79654400-79658600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr6:79655000-79660400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
33	chr6:79655400-79666000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr6:79656000-79658600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr6:79656000-79659000	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr6:79657000-79659800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr6:79657200-79660200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr6:79657400-79658600	Strong transcription	HepG2	liver
39	chr6:79657400-79658800	Weak transcription	NHDF-Ad	bronchial
40	chr6:79657400-79662800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr6:79657600-79658600	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr6:79657600-79658800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr6:79657600-79659000	Weak transcription	K562	blood
44	chr6:79657800-79658600	Weak transcription	Osteobl	bone
45	chr6:79658000-79659200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr6:79658000-79659200	ZNF genes & repeats	Colon Smooth Muscle	Colon
47	chr6:79658000-79659400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr6:79658000-79659600	ZNF genes & repeats	Fetal Brain Female	brain
49	chr6:79658000-79659800	ZNF genes & repeats	Liver	Liver
50	chr6:79658000-79659800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet

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