Variant report

Variant	rs9343870
Chromosome Location	chr6:79789473-79789474
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:79787516-79789700	MCF10A-Er-Src	breast:	n/a	n/a
2	TEAD4	chr6:79789379-79789853	K562	blood:	n/a	n/a
3	MXI1	chr6:79789472-79789478	K562	blood:	n/a	n/a
4	CHD1	chr6:79788268-79789641	H1-hESC	embryonic stem cell:	n/a	n/a
5	TBP	chr6:79787785-79789763	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr6:79787611-79789770	PBDE	blood:	n/a	n/a
7	IRF1	chr6:79787694-79789931	K562	blood:	n/a	n/a
8	POLR2A	chr6:79789430-79789896	H1-neurons	neurons:	n/a	n/a
9	TBL1XR1	chr6:79787730-79789686	GM12878	blood:	n/a	n/a
10	ARID3A	chr6:79787980-79790015	K562	blood:	n/a	n/a
11	RFX5	chr6:79787709-79789702	Hela-S3	cervix:	n/a	n/a
12	CUX1	chr6:79788188-79789529	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:79782683..79789958-chr6:79939846..79945776,22	MCF-7	breast:
2	chr6:79788686..79790517-chr6:80354906..80356790,2	K562	blood:
3	chr6:79785468..79790645-chr6:79941426..79946271,8	K562	blood:
4	chr6:79762969..79765630-chr6:79788155..79789824,2	MCF-7	breast:
5	chr6:79787878..79790499-chr6:79943656..79946271,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IRAK1BP1-3	chr6:79787562-79790141	NONHSAT113677

No data

Variant related genes	Relation type
PHIP	TF binding region
ENSG00000118418	Chromatin interaction
ENSG00000270362	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs1044309	0.84[ASN][1000 genomes]
rs10455356	0.81[ASN][1000 genomes]
rs10755377	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10943600	0.81[EUR][1000 genomes]
rs10943605	0.81[ASN][1000 genomes]
rs10943608	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10943609	0.83[ASN][1000 genomes]
rs10943613	0.85[ASN][1000 genomes]
rs10943616	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs11752126	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11754419	0.87[ASN][1000 genomes]
rs12196457	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12660770	0.83[ASN][1000 genomes]
rs13191068	0.87[ASN][1000 genomes]
rs13204088	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1413968	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1413969	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1415859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1538233	0.85[ASN][1000 genomes]
rs1538235	0.83[ASN][1000 genomes]
rs1547731	0.93[ASN][1000 genomes]
rs1572584	0.85[ASN][1000 genomes]
rs1572585	0.86[ASN][1000 genomes]
rs1890229	0.85[ASN][1000 genomes]
rs1984195	0.83[ASN][1000 genomes]
rs2050659	0.86[ASN][1000 genomes]
rs2050660	0.83[ASN][1000 genomes]
rs2050661	0.83[ASN][1000 genomes]
rs2050662	0.90[ASN][1000 genomes]
rs2063123	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2095724	0.87[ASN][1000 genomes]
rs2105143	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2152951	0.91[ASN][1000 genomes]
rs2174739	0.81[ASN][1000 genomes]
rs35887627	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs36128361	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3805747	0.82[ASN][1000 genomes]
rs3902856	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4565265	0.87[ASN][1000 genomes]
rs4706080	0.91[ASN][1000 genomes]
rs4706743	0.83[EUR][1000 genomes]
rs4706746	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4706747	0.87[ASN][1000 genomes]
rs6454092	0.84[ASN][1000 genomes]
rs6915558	0.90[ASN][1000 genomes]
rs6940637	0.86[ASN][1000 genomes]
rs7741943	0.83[ASN][1000 genomes]
rs7742034	0.87[ASN][1000 genomes]
rs7742431	0.81[ASN][1000 genomes]
rs7753531	0.97[ASN][1000 genomes]
rs7756858	0.83[ASN][1000 genomes]
rs7760866	0.81[ASN][1000 genomes]
rs9343848	0.80[ASN][1000 genomes]
rs9343856	0.82[ASN][1000 genomes]
rs9343860	0.87[ASN][1000 genomes]
rs9343861	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9343863	0.88[ASN][1000 genomes]
rs9350794	0.83[ASN][1000 genomes]
rs9350799	0.85[ASN][1000 genomes]
rs9350800	0.87[ASN][1000 genomes]
rs9352676	0.80[ASN][1000 genomes]
rs9352683	0.87[ASN][1000 genomes]
rs9352686	0.90[ASN][1000 genomes]
rs9352691	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9352694	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9359359	0.85[ASN][1000 genomes]
rs9359360	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9359362	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9359364	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9361466	0.83[ASN][1000 genomes]
rs9361467	0.80[ASN][1000 genomes]
rs9361477	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9361480	0.87[ASN][1000 genomes]
rs9361482	0.87[ASN][1000 genomes]
rs9361488	0.91[ASN][1000 genomes]
rs9443626	0.83[ASN][1000 genomes]
rs9443632	0.83[ASN][1000 genomes]
rs9443637	0.85[ASN][1000 genomes]
rs9443638	0.86[ASN][1000 genomes]
rs9443643	0.99[ASN][1000 genomes]
rs9443645	0.94[ASN][1000 genomes]
rs9448596	0.83[ASN][1000 genomes]
rs9448607	0.85[ASN][1000 genomes]
rs9448610	0.85[ASN][1000 genomes]
rs946022	0.81[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
rs9343870	IRAK1BP1	cis	Skin Sun Exposed Lower leg	GTEx
rs9343870	IRAK1BP1	cis	Artery Tibial	GTEx

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:79783800-79790600	Active TSS	K562	blood
2	chr6:79784000-79789800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr6:79784000-79789800	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr6:79784400-79789600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:79784600-79789800	Active TSS	Fetal Brain Female	brain
6	chr6:79784800-79789600	Active TSS	H1 Cell Line	embryonic stem cell
7	chr6:79785000-79789600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:79785000-79789800	Active TSS	Right Atrium	heart
9	chr6:79785200-79789600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:79785200-79789800	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr6:79785200-79790000	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr6:79785400-79789600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr6:79785400-79789600	Active TSS	Psoas Muscle	Psoas
14	chr6:79785400-79789800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:79785400-79789800	Active TSS	Right Ventricle	heart
16	chr6:79785400-79789800	Active TSS	Thymus	Thymus
17	chr6:79785600-79789600	Active TSS	Fetal Thymus	thymus
18	chr6:79785600-79789600	Active TSS	NHDF-Ad	bronchial
19	chr6:79785800-79789600	Active TSS	Fetal Muscle Leg	muscle
20	chr6:79786000-79789600	Active TSS	Brain Cingulate Gyrus	brain
21	chr6:79786000-79789600	Active TSS	Colon Smooth Muscle	Colon
22	chr6:79786000-79789800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr6:79786200-79789600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr6:79786200-79789600	Active TSS	Duodenum Mucosa	Duodenum
25	chr6:79786200-79789600	Active TSS	Fetal Brain Male	brain
26	chr6:79786200-79789800	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr6:79786400-79789600	Active TSS	Brain Anterior Caudate	brain
28	chr6:79788400-79789800	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr6:79788600-79789800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr6:79788600-79790000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr6:79788800-79789600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:79788800-79789600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr6:79788800-79789600	Flanking Active TSS	Rectal Smooth Muscle	rectum
34	chr6:79788800-79789600	Weak transcription	Small Intestine	intestine
35	chr6:79788800-79789800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr6:79788800-79789800	Flanking Active TSS	HUVEC	blood vessel
37	chr6:79788800-79793600	Weak transcription	Spleen	Spleen
38	chr6:79789000-79789600	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr6:79789000-79789600	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr6:79789000-79789600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
41	chr6:79789000-79789800	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr6:79789000-79789800	Flanking Active TSS	Fetal Kidney	kidney
43	chr6:79789000-79790000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr6:79789200-79789600	Enhancers	Primary B cells from cord blood	blood
45	chr6:79789200-79789600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr6:79789200-79789600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr6:79789200-79789600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr6:79789200-79789600	Enhancers	Colonic Mucosa	Colon
49	chr6:79789200-79789600	Flanking Active TSS	Fetal Heart	heart
50	chr6:79789200-79789600	Flanking Active TSS	HMEC	breast

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