Variant report

Variant	rs10791832
Chromosome Location	chr11:65683918-65683919
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr11:65682080-65684051	A549	lung:	n/a	n/a
2	POLR2A	chr11:65682505-65685837	HCT-116	colon:	n/a	n/a
3	MTA3	chr11:65683561-65684171	GM12878	blood:	n/a	n/a
4	PBX3	chr11:65682526-65684065	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr11:65682313-65684298	SK-N-SH	brain:	n/a	n/a
6	FOSL2	chr11:65682798-65684134	A549	lung:	n/a	chr11:65683299-65683311 chr11:65683301-65683309 chr11:65683301-65683309 chr11:65683382-65683393 chr11:65683300-65683311 chr11:65683301-65683308 chr11:65683384-65683394 chr11:65683300-65683310
7	SIN3AK20	chr11:65683560-65684160	PANC-1	pancreas:	n/a	n/a
8	TCF12	chr11:65682048-65684218	A549	lung:	n/a	chr11:65684067-65684075
9	TCF12	chr11:65682444-65683984	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr11:65683268-65684066	K562	blood:	n/a	n/a
11	POLR2A	chr11:65681960-65688394	PANC-1	pancreas:	n/a	n/a
12	BCL3	chr11:65682784-65683972	A549	lung:	n/a	n/a
13	POLR2A	chr11:65683488-65684280	GM12891	blood:	n/a	n/a
14	NFIC	chr11:65682861-65684018	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr11:65683788-65684087	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr11:65683603-65683967	A549	lung:	n/a	n/a
17	POLR2A	chr11:65683801-65684044	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr11:65682608-65684020	GM12891	blood:	n/a	n/a
19	POLR2A	chr11:65682124-65685845	K562	blood:	n/a	n/a
20	POLR2A	chr11:65682051-65685006	HUVEC	blood vessel:	n/a	n/a
21	POLR2A	chr11:65683483-65683991	HepG2	liver:	n/a	n/a
22	POLR2A	chr11:65683247-65684328	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr11:65683877-65684105	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr11:65682189-65684526	HL-60	blood:	n/a	n/a
25	POLR2A	chr11:65683823-65684070	GM12878	blood:	n/a	n/a
26	EP300	chr11:65682580-65684199	A549	lung:	n/a	chr11:65683301-65683310
27	GATA3	chr11:65682533-65683994	A549	lung:	n/a	chr11:65683386-65683395
28	POLR2A	chr11:65681389-65688769	PANC-1	pancreas:	n/a	n/a
29	TBP	chr11:65683777-65683926	K562	blood:	n/a	n/a
30	SP1	chr11:65682339-65684011	HCT-116	colon:	n/a	chr11:65683163-65683177
31	POLR2A	chr11:65682362-65684676	GM12892	blood:	n/a	n/a
32	POLR2A	chr11:65682430-65684736	SK-N-MC	brain:	n/a	n/a
33	EP300	chr11:65682579-65684195	A549	lung:	n/a	chr11:65683301-65683310
34	POLR2A	chr11:65682380-65686585	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr11:65682559-65684147	HepG2	liver:	n/a	n/a
36	POLR2A	chr11:65683741-65684518	HUVEC	blood vessel:	n/a	n/a
37	POLR2A	chr11:65683005-65684990	K562	blood:	n/a	n/a
38	POLR2A	chr11:65683132-65684226	PFSK-1	brain:	n/a	n/a
39	POLR2A	chr11:65682054-65686599	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr11:65682270-65687707	K562	blood:	n/a	n/a
41	POLR2A	chr11:65682661-65686627	HCT-116	colon:	n/a	n/a
42	POLR2A	chr11:65683088-65683950	GM12892	blood:	n/a	n/a
43	JUND	chr11:65682656-65683918	A549	lung:	n/a	chr11:65683299-65683311 chr11:65683301-65683309 chr11:65683301-65683309 chr11:65683299-65683310 chr11:65683300-65683311 chr11:65683301-65683308 chr11:65683384-65683394 chr11:65683300-65683310
44	POLR2A	chr11:65681773-65687130	U87	brain:	n/a	n/a
45	POLR2A	chr11:65683210-65684327	PFSK-1	brain:	n/a	n/a
46	PBX3	chr11:65682389-65684117	A549	lung:	n/a	n/a
47	FOS	chr11:65683126-65684015	MCF10A-Er-Src	breast:	n/a	chr11:65683383-65683394 chr11:65683299-65683311 chr11:65683301-65683309 chr11:65683301-65683309 chr11:65683300-65683311 chr11:65683301-65683308 chr11:65683384-65683394 chr11:65683300-65683310
48	SIN3AK20	chr11:65682965-65683957	SK-N-SH	brain:	n/a	n/a
49	POLR2A	chr11:65683901-65683998	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr11:65683060-65684202	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:65485702..65488169-chr11:65683105..65685418,2	MCF-7	breast:
2	chr11:65683165..65691632-chr11:65723620..65730701,28	MCF-7	breast:
3	chr11:65485621..65487776-chr11:65682434..65684591,2	K562	blood:
4	chr11:65681117..65683931-chr9:19374587..19377457,2	K562	blood:
5	chr11:65682118..65684018-chr11:65775122..65778045,2	MCF-7	breast:
6	chr11:65682614..65684925-chr11:65768572..65770745,2	MCF-7	breast:
7	chr11:65683260..65685556-chr11:65700127..65702595,2	MCF-7	breast:
8	chr11:65624095..65629782-chr11:65682347..65689302,13	MCF-7	breast:
9	chr11:65652289..65653954-chr11:65682790..65684539,2	MCF-7	breast:
10	chr11:65650579..65663306-chr11:65677153..65690311,39	MCF-7	breast:
11	chr11:65622510..65630779-chr11:65675126..65689187,23	MCF-7	breast:

Variant related genes	Relation type
DRAP1	TF binding region
ENSG00000273226	Chromatin interaction
ENSG00000175376	Chromatin interaction
ENSG00000175467	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000175602	Chromatin interaction
ENSG00000175334	Chromatin interaction
ENSG00000172922	Chromatin interaction
ENSG00000172500	Chromatin interaction
ENSG00000137154	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000172977	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10791831	0.90[EUR][1000 genomes]
rs10896065	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs11825885	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs12288911	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs653955	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs7940700	1.00[CEU][hapmap]
rs7947504	1.00[ASW][hapmap];0.94[MKK][hapmap];0.81[YRI][hapmap];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9326360	1.00[CEU][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9326361	1.00[CEU][hapmap]
rs9795434	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[LWK][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
2	esv2758274	chr11:65559893-65722363	Genic enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
3	esv2759834	chr11:65559893-65722363	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
4	nsv427890	chr11:65559893-65722363	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv897761	chr11:65580638-65738566	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases
6	nsv897762	chr11:65613218-65758854	Active TSS Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	185 gene(s)	inside rSNPs	diseases
7	nsv897764	chr11:65613348-65695222	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
8	nsv897765	chr11:65623708-65758854	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
9	nsv832191	chr11:65632329-65806120	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
10	nsv897767	chr11:65683531-65690206	Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10791832	WNT1	trans	brain	seeQTL
rs10791832	FCER2	trans	brain	seeQTL
rs10791832	DUSP2	trans	brain	seeQTL
rs10791832	GPR3	trans	brain	seeQTL

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65677800-65684000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:65679400-65685200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:65679600-65684400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr11:65679600-65684400	Enhancers	Placenta	Placenta
5	chr11:65680000-65684400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:65680000-65684600	Weak transcription	Fetal Lung	lung
7	chr11:65681600-65685400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr11:65681800-65684800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr11:65682000-65684800	Enhancers	Esophagus	oesophagus
10	chr11:65682000-65685200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:65682000-65685400	Enhancers	Placenta Amnion	Placenta Amnion
12	chr11:65682200-65684000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:65682200-65684000	Enhancers	Fetal Muscle Trunk	muscle
14	chr11:65682200-65684200	Flanking Active TSS	HSMMtube	muscle
15	chr11:65682200-65684200	Flanking Active TSS	NHEK	skin
16	chr11:65682200-65684400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:65682200-65684400	Enhancers	Primary B cells from peripheral blood	blood
18	chr11:65682200-65684400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr11:65682200-65684800	Enhancers	Ovary	ovary
20	chr11:65682200-65684800	Enhancers	Psoas Muscle	Psoas
21	chr11:65682200-65684800	Enhancers	Right Ventricle	heart
22	chr11:65682200-65685000	Genic enhancers	Fetal Stomach	stomach
23	chr11:65682200-65685000	Enhancers	Pancreas	Pancrea
24	chr11:65682200-65685200	Enhancers	Left Ventricle	heart
25	chr11:65682200-65685800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr11:65682400-65684000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr11:65682400-65684200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr11:65682400-65684200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr11:65682400-65684200	Enhancers	Fetal Muscle Leg	muscle
30	chr11:65682400-65684200	Enhancers	Right Atrium	heart
31	chr11:65682400-65684400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr11:65682400-65684400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr11:65682400-65684400	Enhancers	Spleen	Spleen
34	chr11:65682400-65684600	Enhancers	Lung	lung
35	chr11:65682400-65684800	Enhancers	Duodenum Mucosa	Duodenum
36	chr11:65682400-65685200	Enhancers	Brain Cingulate Gyrus	brain
37	chr11:65682400-65685200	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr11:65682600-65684000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:65682600-65684200	Strong transcription	Fetal Intestine Small	intestine
40	chr11:65682600-65684200	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr11:65682600-65684400	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr11:65682600-65684400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr11:65682600-65684800	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr11:65682600-65685000	Enhancers	Brain Hippocampus Middle	brain
45	chr11:65682600-65685400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr11:65682600-65685400	Enhancers	Brain Angular Gyrus	brain
47	chr11:65682600-65685400	Enhancers	Brain Substantia Nigra	brain
48	chr11:65682600-65685600	Enhancers	Fetal Heart	heart
49	chr11:65682600-65686000	Flanking Active TSS	Hela-S3	cervix
50	chr11:65682600-65686400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin

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