Variant report

Variant	rs9350789
Chromosome Location	chr6:79577644-79577645
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:366)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:79576838-79577772	PBDE	blood:	n/a	n/a
2	IRF1	chr6:79577262-79577653	K562	blood:	n/a	n/a
3	CTCF	chr6:79577640-79577790	AG10803	skin:	n/a	n/a
4	CTCF	chr6:79577520-79577670	HMEC	breast:	n/a	n/a
5	POLR2A	chr6:79576916-79577904	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr6:79577570-79577734	SK-N-SH_RA	brain:	n/a	n/a
7	RELA	chr6:79576799-79577753	GM15510	blood:	n/a	n/a
8	CTCF	chr6:79577560-79577710	GM12864	blood:	n/a	n/a
9	KAP1	chr6:79576821-79578129	HEK293	kidney:	n/a	n/a
10	CTCF	chr6:79577560-79577710	HCFaa	heart:	n/a	n/a
11	PAX5	chr6:79577062-79577650	GM12892	blood:	n/a	n/a
12	CTCF	chr6:79577580-79577730	HEK293	kidney:	n/a	n/a
13	CTCF	chr6:79577540-79577690	GM12868	blood:	n/a	n/a
14	CTCF	chr6:79577600-79577750	GM12869	blood:	n/a	n/a
15	MYC	chr6:79576968-79577766	NB4	blood:	n/a	n/a
16	USF2	chr6:79577460-79577728	Hela-S3	cervix:	n/a	n/a
17	MXI1	chr6:79576715-79578583	SK-N-SH	brain:	n/a	chr6:79577948-79577957 chr6:79577265-79577280
18	CTCF	chr6:79577580-79577730	HCPEpiC	choroid plexus:	n/a	n/a
19	TCF7L2	chr6:79576788-79577883	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr6:79577071-79577792	H1-neurons	neurons:	n/a	n/a
21	FOXM1	chr6:79576705-79577828	GM12878	blood:	n/a	n/a
22	TAF1	chr6:79576837-79577834	GM12878	blood:	n/a	n/a
23	CTCF	chr6:79577500-79577650	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr6:79576902-79577885	GM12892	blood:	n/a	n/a
25	CTCF	chr6:79577540-79577690	SAEC	small airway:	n/a	n/a
26	CTCF	chr6:79577560-79577710	A549	lung:	n/a	n/a
27	ZKSCAN1	chr6:79577079-79577716	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr6:79577599-79577781	GM19239	blood:	n/a	n/a
29	CREB1	chr6:79576734-79577856	GM12878	blood:	n/a	n/a
30	POLR2A	chr6:79576839-79577780	K562	blood:	n/a	n/a
31	JUND	chr6:79577025-79577951	H1-hESC	embryonic stem cell:	n/a	n/a
32	BCLAF1	chr6:79576821-79577785	GM12878	blood:	n/a	n/a
33	POLR2A	chr6:79576857-79577790	GM12878	blood:	n/a	n/a
34	MAX	chr6:79576931-79577795	ECC-1	luminal epithelium:	n/a	n/a
35	CTCF	chr6:79577600-79577750	HCT-116	colon:	n/a	n/a
36	SP1	chr6:79577099-79577850	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr6:79576926-79577852	MCF10A-Er-Src	breast:	n/a	n/a
38	YY1	chr6:79576967-79577745	GM12878	blood:	n/a	n/a
39	CTCF	chr6:79577443-79577793	GM19240	blood:	n/a	n/a
40	GTF2B	chr6:79577045-79577801	K562	blood:	n/a	n/a
41	EGR1	chr6:79577444-79577665	GM12878	blood:	n/a	n/a
42	SIN3A	chr6:79576985-79577967	H1-hESC	embryonic stem cell:	n/a	chr6:79577948-79577957
43	CTCF	chr6:79577640-79577790	HA-sp	spinal cord:	n/a	n/a
44	CTCF	chr6:79577500-79577650	HEEpiC	esophagus:	n/a	n/a
45	RELA	chr6:79576860-79577711	GM10847	blood:	n/a	n/a
46	CEBPB	chr6:79576983-79577921	Hela-S3	cervix:	n/a	chr6:79577904-79577917
47	TAF1	chr6:79576721-79577898	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr6:79576878-79577843	Hela-S3	cervix:	n/a	n/a
49	CTCF	chr6:79577580-79577730	Caco-2	colon:	n/a	n/a
50	POLR2A	chr6:79576958-79577801	NB4	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:79577640-79577690	HCF	heart:	n/a
2	chr6:79577640-79577690	HNPCEpiC	eye:	n/a
3	chr6:79577640-79577690	NHBE	bronchial:	n/a
4	chr6:79577640-79577690	SK-N-SH_RA	brain:	n/a
5	chr6:79577640-79577690	SKMC	muscle:	n/a
6	chr6:79577640-79577690	Hela-S3	cervix:	n/a
7	chr6:79577640-79577690	GM12891	blood:	n/a
8	chr6:79577640-79577690	IMR90	lung:	fetal
9	chr6:79577640-79577690	HEK293	kidney:	embryo
10	chr6:79577640-79577690	HAEpiC	amniotic membrane:	n/a
11	chr6:79577640-79577690	MCF-7	breast:	n/a
12	chr6:79577640-79577690	GM06990	blood:	n/a
13	chr6:79577640-79577690	NT2-D1	testis:	n/a
14	chr6:79577640-79577690	AoSMC	blood vessel:	n/a
15	chr6:79577640-79577690	RPTEC	kidney:	n/a
16	chr6:79577640-79577690	HRE	kidney:	n/a
17	chr6:79577640-79577690	PANC-1	pancreas:	n/a
18	chr6:79577640-79577690	GM19239	blood:	n/a
19	chr6:79577640-79577690	Jurkat	blood:	n/a
20	chr6:79577640-79577690	A549	lung:	n/a
21	chr6:79577640-79577690	GM12878	blood:	n/a
22	chr6:79577640-79577690	HRPEpiC	eye:	n/a
23	chr6:79577640-79577690	H1-hESC	embryonic stem cell:	embryo
24	chr6:79577640-79577690	SK-N-SH	brain:	n/a
25	chr6:79577640-79577690	HMEC	breast:	n/a
26	chr6:79577640-79577690	NH-A	brain:	n/a
27	chr6:79577640-79577690	LNCaP	prostate:	n/a
28	chr6:79577640-79577690	ProgFib	skin:	n/a
29	chr6:79577640-79577690	BJ	skin:	n/a
30	chr6:79577640-79577690	HRCEpiC	kidney:	n/a
31	chr6:79577640-79577690	BE2_C	brain:	n/a
32	chr6:79577640-79577690	AG09319	gingival:	n/a
33	chr6:79577640-79577690	ECC-1	luminal epithelium:	n/a
34	chr6:79577640-79577690	HUVEC	blood vessel:	n/a
35	chr6:79577640-79577690	HCM	heart:	n/a
36	chr6:79577640-79577690	CMK	blood:	n/a
37	chr6:79577640-79577690	U87	brain:	n/a
38	chr6:79577640-79577690	HepG2	liver:	n/a
39	chr6:79577640-79577690	K562	blood:	n/a
40	chr6:79577640-79577690	SK-N-MC	brain:	n/a
41	chr6:79577640-79577690	MCF10A-Er-Src	breast:	n/a
42	chr6:79577640-79577690	AG10803	skin:	n/a
43	chr6:79577640-79577690	AG09309	skin:	n/a
44	chr6:79577640-79577690	HPAEpiC	pulmonary alveolar:	n/a
45	chr6:79577640-79577690	Hepatocyte	liver:	n/a
46	chr6:79577640-79577690	AG04450	lung:	fetal
47	chr6:79577640-79577690	PFSK-1	brain:	n/a
48	chr6:79577640-79577690	HIPEpiC	eye:	n/a
49	chr6:79577640-79577690	T-47D	breast:	n/a
50	chr6:79577640-79577690	GM12892	blood:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:79575800..79578597-chr6:79786334..79789260,2	MCF-7	breast:
2	chr6:79576198..79578688-chr6:79580398..79583072,2	K562	blood:

No data

Variant related genes	Relation type
IRAK1BP1	TF binding region
IRAK1BP1	CpG island
ENSG00000146247	Chromatin interaction
ENSG00000146243	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1021988	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11547228	1.00[CHB][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12110918	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1283320	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]
rs1507148	0.96[EUR][1000 genomes]
rs1933238	0.89[ASW][hapmap];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];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1963080	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2013420	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2089416	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2135768	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2135771	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2135772	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2321894	0.96[EUR][1000 genomes]
rs4327648	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55696019	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56769571	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60527133	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62424927	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6454089	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66509445	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66537043	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66587298	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67073459	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67143444	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67192540	0.86[AFR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67221234	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67241845	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67354417	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67628258	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67763383	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67799776	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67815356	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67890480	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67903175	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs68067309	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs68099353	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6936109	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72902902	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73464131	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73464167	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7767182	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs906319	0.92[EUR][1000 genomes]
rs906320	0.92[EUR][1000 genomes]
rs9341755	0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9343838	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9343846	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9352673	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9352674	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9359355	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9359358	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9361468	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9968921	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9969106	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[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	esv1839807	chr6:79532610-79606615	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv970379	chr6:79571879-79578296	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9350789	IRAK1BP1	cis	lymphoblastoid	seeQTL
rs9350789	IRAK1BP1	Cis_1M	lymphoblastoid	RTeQTL
rs9350789	IRAK1BP1	cis	multi-tissue	Pritchard

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:79574600-79578400	Active TSS	K562	blood
2	chr6:79576000-79578600	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr6:79576200-79577800	Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr6:79576200-79578000	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr6:79576200-79578000	Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr6:79576200-79578200	Active TSS	Brain Hippocampus Middle	brain
7	chr6:79576200-79578200	Active TSS	Rectal Mucosa Donor 31	rectum
8	chr6:79576200-79578200	Active TSS	A549	lung
9	chr6:79576200-79578400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr6:79576200-79578400	Active TSS	Hela-S3	cervix
11	chr6:79576200-79578600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr6:79576200-79578600	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr6:79576200-79578600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:79576200-79578600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:79576400-79577800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr6:79576400-79577800	Active TSS	HUVEC	blood vessel
17	chr6:79576400-79578000	Active TSS	Fetal Brain Female	brain
18	chr6:79576400-79578000	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr6:79576400-79578200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr6:79576400-79578200	Active TSS	Muscle Satellite Cultured Cells	--
21	chr6:79576400-79578200	Active TSS	Brain Angular Gyrus	brain
22	chr6:79576400-79578200	Active TSS	Psoas Muscle	Psoas
23	chr6:79576400-79578200	Active TSS	HMEC	breast
24	chr6:79576400-79578200	Active TSS	NHEK	skin
25	chr6:79576400-79578400	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr6:79576400-79578400	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr6:79576400-79578400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:79576400-79578400	Active TSS	Duodenum Mucosa	Duodenum
29	chr6:79576400-79578400	Active TSS	Fetal Kidney	kidney
30	chr6:79576400-79578400	Active TSS	Fetal Lung	lung
31	chr6:79576400-79578400	Active TSS	Rectal Smooth Muscle	rectum
32	chr6:79576400-79578400	Active TSS	Right Atrium	heart
33	chr6:79576400-79578400	Active TSS	NHDF-Ad	bronchial
34	chr6:79576400-79578600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:79576400-79578600	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr6:79576400-79578600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr6:79576400-79578600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr6:79576400-79578600	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr6:79576400-79578600	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr6:79576400-79578600	Active TSS	Stomach Smooth Muscle	stomach
41	chr6:79576400-79578800	Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr6:79576600-79577800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr6:79576600-79577800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr6:79576600-79577800	Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr6:79576600-79577800	Active TSS	Dnd41	blood
46	chr6:79576600-79578000	Active TSS	Brain Anterior Caudate	brain
47	chr6:79576600-79578000	Active TSS	Thymus	Thymus
48	chr6:79576600-79578000	Active TSS	GM12878-XiMat	blood
49	chr6:79576600-79578000	Active TSS	HSMM	muscle
50	chr6:79576600-79578200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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