Variant report

Variant	rs1283320
Chromosome Location	chr6:79658115-79658116
allele	C/G
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: 58 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1021988	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10943611	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11547228	1.00[CHB][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12110918	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1507148	0.92[EUR][1000 genomes]
rs1933238	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1963080	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2013420	0.87[EUR][1000 genomes]
rs2089416	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2135768	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2135771	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2135772	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2321894	0.92[EUR][1000 genomes]
rs3812161	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4327648	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55696019	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56769571	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60527133	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62424927	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6454089	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66509445	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66537043	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66587298	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67073459	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67143444	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67192540	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67221234	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67241845	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67354417	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67628258	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67763383	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67799776	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67815356	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67890480	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67903175	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs68067309	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68099353	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6936109	0.96[EUR][1000 genomes]
rs72902902	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73464131	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73464167	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73466226	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73466238	0.82[ASN][1000 genomes]
rs7767182	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs906319	0.88[EUR][1000 genomes]
rs906320	0.88[EUR][1000 genomes]
rs9341755	0.95[EUR][1000 genomes]
rs9343838	0.88[EUR][1000 genomes]
rs9343846	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9350789	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9352673	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9352674	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9359355	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9359358	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9361468	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9968921	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9969106	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[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
rs1283320	IRAK1BP1	cis	Lymphoblastoid	GTEx
rs1283320	IRAK1BP1	cis	lymphoblastoid	seeQTL
rs1283320	IRAK1BP1	cis	multi-tissue	Pritchard

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:79642600-79658200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:79644000-79658600	Strong transcription	Dnd41	blood
3	chr6:79645600-79658200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:79645600-79658600	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr6:79646000-79658400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:79646200-79658200	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr6:79646200-79658200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr6:79646200-79659000	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr6:79646400-79658200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr6:79646400-79658400	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr6:79647200-79658200	Strong transcription	Placenta	Placenta
12	chr6:79648000-79658200	Weak transcription	Esophagus	oesophagus
13	chr6:79648000-79658800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr6:79648000-79660600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr6:79648000-79681200	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr6:79648200-79658200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr6:79648800-79658200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr6:79648800-79658200	Strong transcription	Duodenum Mucosa	Duodenum
19	chr6:79648800-79658200	Weak transcription	Fetal Stomach	stomach
20	chr6:79648800-79658400	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr6:79648800-79658400	Strong transcription	Duodenum Smooth Muscle	Duodenum
22	chr6:79648800-79658600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr6:79648800-79658600	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr6:79648800-79658600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:79648800-79658600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr6:79648800-79659000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr6:79648800-79714400	Weak transcription	Gastric	stomach
28	chr6:79649000-79658200	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr6:79649000-79658200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:79649000-79658200	Weak transcription	Pancreas	Pancrea
31	chr6:79649000-79658200	Weak transcription	Spleen	Spleen
32	chr6:79649000-79658400	Strong transcription	Primary B cells from cord blood	blood
33	chr6:79649000-79658400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr6:79649000-79666200	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr6:79649000-79715200	Weak transcription	Stomach Mucosa	stomach
36	chr6:79649200-79658200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr6:79649200-79658200	Weak transcription	Right Ventricle	heart
38	chr6:79649200-79658600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr6:79649400-79658200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr6:79649400-79658200	Strong transcription	Primary hematopoietic stem cells	blood
41	chr6:79649400-79658200	Strong transcription	Adipose Nuclei	Adipose
42	chr6:79649400-79658200	Strong transcription	Fetal Intestine Large	intestine
43	chr6:79649400-79658400	Strong transcription	Fetal Lung	lung
44	chr6:79649400-79658600	Strong transcription	Primary B cells from peripheral blood	blood
45	chr6:79649400-79659200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr6:79649600-79658400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr6:79649600-79659000	Strong transcription	Fetal Thymus	thymus
48	chr6:79649600-79681400	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr6:79650000-79659200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr6:79650200-79658400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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