Variant report

Variant	rs11706291
Chromosome Location	chr3:138610180-138610181
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:43)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:43 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL1	chr3:138609986-138610415	HCT-116	colon:	n/a	n/a
2	ARID3A	chr3:138609977-138610292	HepG2	liver:	n/a	n/a
3	JUND	chr3:138609731-138610474	K562	blood:	n/a	n/a
4	USF2	chr3:138610099-138610228	Hela-S3	cervix:	n/a	n/a
5	USF1	chr3:138610050-138610402	HCT-116	colon:	n/a	n/a
6	TBL1XR1	chr3:138609927-138610282	K562	blood:	n/a	n/a
7	POLR2A	chr3:138610028-138610554	HUVEC	blood vessel:	n/a	n/a
8	MYC	chr3:138609746-138610446	K562	blood:	n/a	n/a
9	TEAD4	chr3:138609488-138610407	K562	blood:	n/a	n/a
10	CBX3	chr3:138609640-138610448	K562	blood:	n/a	n/a
11	JUN	chr3:138610089-138610473	K562	blood:	n/a	n/a
12	STAT3	chr3:138610099-138610456	MCF10A-Er-Src	breast:	n/a	n/a
13	FOSL2	chr3:138610036-138610325	HepG2	liver:	n/a	n/a
14	JUN	chr3:138609680-138610620	K562	blood:	n/a	n/a
15	MAFK	chr3:138609724-138610211	K562	blood:	n/a	chr3:138609792-138609807
16	EP300	chr3:138610010-138610416	K562	blood:	n/a	n/a
17	RCOR1	chr3:138610136-138610477	K562	blood:	n/a	n/a
18	BCL11A	chr3:138610126-138610385	GM12878	blood:	n/a	n/a
19	EP300	chr3:138609882-138610442	HepG2	liver:	n/a	n/a
20	POLR2A	chr3:138610070-138610331	HUVEC	blood vessel:	n/a	n/a
21	POLR2A	chr3:138610037-138610230	MCF10A-Er-Src	breast:	n/a	n/a
22	ARID3A	chr3:138609961-138610392	K562	blood:	n/a	n/a
23	FOS	chr3:138610087-138610418	MCF10A-Er-Src	breast:	n/a	n/a
24	STAT3	chr3:138610118-138610407	MCF10A-Er-Src	breast:	n/a	n/a
25	MAX	chr3:138609556-138610459	NB4	blood:	n/a	n/a
26	FOS	chr3:138610091-138610401	MCF10A-Er-Src	breast:	n/a	n/a
27	FOXA1	chr3:138609951-138610295	HepG2	liver:	n/a	n/a
28	JUN	chr3:138609954-138610453	HUVEC	blood vessel:	n/a	n/a
29	FOSL2	chr3:138610018-138610378	HepG2	liver:	n/a	n/a
30	IRF1	chr3:138610101-138610303	K562	blood:	n/a	n/a
31	ATF1	chr3:138610130-138610387	K562	blood:	n/a	n/a
32	IRF1	chr3:138610109-138610304	K562	blood:	n/a	n/a
33	FOS	chr3:138609762-138610476	HUVEC	blood vessel:	n/a	n/a
34	JUN	chr3:138610095-138610440	K562	blood:	n/a	n/a
35	NFIC	chr3:138610003-138610322	HepG2	liver:	n/a	n/a
36	GATA2	chr3:138610093-138610477	HUVEC	blood vessel:	n/a	n/a
37	USF1	chr3:138610102-138610362	K562	blood:	n/a	n/a
38	POLR2A	chr3:138610100-138610216	HUVEC	blood vessel:	n/a	n/a
39	JUN	chr3:138609863-138610416	K562	blood:	n/a	n/a
40	MYC	chr3:138609549-138610349	NB4	blood:	n/a	n/a
41	FOS	chr3:138609960-138610472	MCF10A-Er-Src	breast:	n/a	n/a
42	JUND	chr3:138610140-138610364	HepG2	liver:	n/a	n/a
43	FOS	chr3:138609974-138610466	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:138553429..138554961-chr3:138609413..138611787,2	K562	blood:

No data

Variant related genes	Relation type
ATP5G1P3	TF binding region
ENSG00000051382	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11706016	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11716946	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12633714	0.86[ASN][1000 genomes]
rs13061496	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13072146	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13100110	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28826701	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35514824	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4894329	0.83[EUR][1000 genomes]
rs62282204	0.86[ASN][1000 genomes]
rs62282207	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6439828	0.84[EUR][1000 genomes]
rs6776833	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7634571	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9812318	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9817734	0.89[EUR][1000 genomes]
rs9818521	0.93[ASN][1000 genomes]
rs9832447	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9850990	0.85[EUR][1000 genomes]
rs9851887	0.84[EUR][1000 genomes]
rs9870355	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9871842	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9881861	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9882957	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530057	chr3:138014877-138734390	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1013074	chr3:138213166-138737688	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1002612	chr3:138213274-138831792	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv536726	chr3:138213274-138831792	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1009726	chr3:138219923-138737688	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv869205	chr3:138248190-138775288	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv868955	chr3:138248190-138848947	Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv591854	chr3:138348081-138764229	Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv1010514	chr3:138365640-138737688	Flanking Bivalent TSS/Enh Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv1000927	chr3:138423543-138632596	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv917964	chr3:138440701-138699084	Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11706291	CEP70	Cis_1M	lymphoblastoid	RTeQTL
rs11706291	PIK3CB	Cis_1M	lymphoblastoid	RTeQTL
rs11706291	FAIM	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138607000-138611200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr3:138607400-138610400	Enhancers	K562	blood
3	chr3:138607400-138611000	Enhancers	Primary hematopoietic stem cells	blood
4	chr3:138607400-138611000	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr3:138607400-138611000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr3:138607600-138611000	Enhancers	Primary B cells from cord blood	blood
7	chr3:138607600-138611000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr3:138608800-138622200	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr3:138609400-138610400	Enhancers	Primary B cells from peripheral blood	blood
10	chr3:138609600-138610200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:138609600-138610200	Enhancers	HUVEC	blood vessel
12	chr3:138609600-138610400	Enhancers	GM12878-XiMat	blood
13	chr3:138609800-138610200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr3:138609800-138610200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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