Variant report

Variant	rs10840112
Chromosome Location	chr11:8710511-8710512
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:620)
CpG islands
(count:0)
Chromatin interactive
region (count:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:620 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr11:8710284-8710845	K562	blood:	n/a	n/a
2	CTCF	chr11:8710420-8710570	NHEK	skin:	n/a	n/a
3	TEAD4	chr11:8710290-8710901	H1-hESC	embryonic stem cell:	n/a	n/a
4	NR2C2	chr11:8710256-8710785	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr11:8708423-8711051	MCF-7	breast:	n/a	n/a
6	CTCF	chr11:8710420-8710570	AG09309	skin:	n/a	n/a
7	GABPA	chr11:8709534-8711165	HL-60	blood:	n/a	n/a
8	MYBL2	chr11:8709487-8711156	HepG2	liver:	n/a	n/a
9	MYC	chr11:8710338-8710693	HUVEC	blood vessel:	n/a	n/a
10	TAF1	chr11:8710287-8710582	GM12892	blood:	n/a	n/a
11	MAX	chr11:8709607-8710942	Hela-S3	cervix:	n/a	n/a
12	EGR1	chr11:8710260-8710757	ECC-1	luminal epithelium:	n/a	n/a
13	STAT3	chr11:8709880-8711194	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr11:8702898-8711816	GM12891	blood:	n/a	n/a
15	REST	chr11:8710182-8710849	PFSK-1	brain:	n/a	n/a
16	E2F6	chr11:8710098-8710991	A549	lung:	n/a	n/a
17	TCF12	chr11:8710146-8711018	ECC-1	luminal epithelium:	n/a	n/a
18	RAD21	chr11:8710196-8710853	SK-N-SH_RA	brain:	n/a	n/a
19	SIX5	chr11:8709323-8711065	A549	lung:	n/a	n/a
20	PML	chr11:8709351-8711109	K562	blood:	n/a	n/a
21	MAX	chr11:8710252-8710761	H1-hESC	embryonic stem cell:	n/a	n/a
22	UBTF	chr11:8709607-8710870	K562	blood:	n/a	n/a
23	ZBTB33	chr11:8709625-8710960	A549	lung:	n/a	n/a
24	E2F6	chr11:8710183-8711001	H1-hESC	embryonic stem cell:	n/a	n/a
25	ATF2	chr11:8709373-8711093	H1-hESC	embryonic stem cell:	n/a	n/a
26	TCF7L2	chr11:8710086-8711014	PANC-1	pancreas:	n/a	n/a
27	POLR2A	chr11:8709385-8712824	K562	blood:	n/a	n/a
28	POLR2A	chr11:8702842-8711846	PANC-1	pancreas:	n/a	n/a
29	CTCF	chr11:8710400-8710550	GM12865	blood:	n/a	n/a
30	CTCF	chr11:8710305-8710540	GM12892	blood:	n/a	n/a
31	EP300	chr11:8710380-8710761	SK-N-SH_RA	brain:	n/a	n/a
32	REST	chr11:8710203-8710918	HepG2	liver:	n/a	n/a
33	CREB1	chr11:8710176-8710856	A549	lung:	n/a	n/a
34	RAD21	chr11:8710158-8710751	HepG2	liver:	n/a	n/a
35	SMC3	chr11:8709582-8710972	Hela-S3	cervix:	n/a	n/a
36	E2F6	chr11:8710334-8710905	H1-hESC	embryonic stem cell:	n/a	n/a
37	PBX3	chr11:8709430-8710978	A549	lung:	n/a	n/a
38	SRF	chr11:8710317-8710745	H1-hESC	embryonic stem cell:	n/a	n/a
39	NR2F2	chr11:8710166-8710781	K562	blood:	n/a	n/a
40	MAZ	chr11:8709591-8711201	K562	blood:	n/a	n/a
41	CREB1	chr11:8710127-8710921	GM12878	blood:	n/a	n/a
42	CTCF	chr11:8710078-8710902	K562	blood:	n/a	n/a
43	ZMIZ1	chr11:8709926-8711794	K562	blood:	n/a	n/a
44	GABPA	chr11:8709423-8711086	SK-N-SH	brain:	n/a	n/a
45	SRF	chr11:8710180-8710987	ECC-1	luminal epithelium:	n/a	n/a
46	CTBP2	chr11:8710248-8710737	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr11:8710332-8710525	NHEK	skin:	n/a	n/a
48	GABPA	chr11:8710099-8710983	HL-60	blood:	n/a	n/a
49	CTCF	chr11:8710380-8710530	HRE	kidney:	n/a	n/a
50	GABPA	chr11:8710188-8710822	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:8709152..8712798-chr11:8746110..8748956,4	MCF-7	breast:
2	chr11:8708851..8710617-chr11:8748312..8750777,3	K562	blood:
3	chr11:8476130..8478449-chr11:8710032..8712204,2	K562	blood:
4	chr11:8708222..8712147-chr11:8785051..8789387,4	MCF-7	breast:
5	chr11:8708277..8712745-chr11:8814108..8817920,5	MCF-7	breast:
6	chr11:8710001..8710863-chr11:67889168..67889751,2	Hela-S3	cervix:
7	chr11:8710427..8711170-chr17:56736487..56737163,2	MCF-7	breast:
8	chr11:8708558..8712875-chr11:8739230..8741866,3	K562	blood:
9	chr11:8709096..8712017-chr11:9482712..9485056,2	K562	blood:
10	chr11:8709069..8714690-chr11:8738952..8744779,10	MCF-7	breast:
11	chr11:8709479..8712307-chr11:8712972..8716902,4	MCF-7	breast:
12	chr11:8709205..8712397-chr11:8778361..8782089,3	MCF-7	breast:
13	chr1:10458808..10459803-chr11:8710259..8711120,2	HCT-116	colon:
14	chr11:8710094..8710709-chr5:102455248..102455883,2	Hela-S3	cervix:
15	chr11:8710131..8710909-chr9:102861030..102861886,2	Hela-S3	cervix:
16	chr11:8709340..8711728-chr11:8931222..8932960,2	MCF-7	breast:
17	chr11:8639153..8644664-chr11:8708674..8711558,4	K562	blood:
18	chr11:8709572..8711665-chr11:8791796..8793909,2	MCF-7	breast:
19	chr11:8710150..8710818-chr17:56708769..56709275,2	HCT-116	colon:
20	chr11:8656504..8659058-chr11:8708189..8710580,2	K562	blood:
21	chr11:8670735..8672985-chr11:8708630..8710565,2	K562	blood:
22	chr11:8707539..8711325-chr11:8831652..8835543,5	MCF-7	breast:
23	chr11:8708821..8711720-chr11:8797773..8800794,3	MCF-7	breast:
24	chr11:8708063..8712072-chr11:8719395..8721853,4	MCF-7	breast:
25	chr11:8708115..8711236-chr11:8740398..8742559,3	MCF-7	breast:
26	chr11:8709091..8710608-chr11:8985124..8987307,2	MCF-7	breast:
27	chr11:8709503..8714356-chr11:8719036..8721571,6	MCF-7	breast:
28	chr11:8669571..8671256-chr11:8708730..8710584,2	MCF-7	breast:
29	chr11:8709428..8711935-chr11:8797742..8799466,2	K562	blood:
30	chr11:8709045..8711792-chr2:74211303..74213379,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000254665	TF binding region
RPL27A	TF binding region
ENSG00000175348	Chromatin interaction
ENSG00000142657	Chromatin interaction
ENSG00000235499	Chromatin interaction
ENSG00000023318	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000166436	Chromatin interaction
ENSG00000254665	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000254860	Chromatin interaction
ENSG00000130413	Chromatin interaction
ENSG00000166444	Chromatin interaction
ENSG00000166478	Chromatin interaction
ENSG00000145725	Chromatin interaction
ENSG00000119509	Chromatin interaction
ENSG00000166452	Chromatin interaction
ENSG00000255236	Chromatin interaction
ENSG00000145723	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 28 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10840105	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10840106	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10840114	1.00[ASW][hapmap]
rs11042041	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2036422	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2073684	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35104495	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7123653	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7940366	1.00[ASW][hapmap];0.89[CEU][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]

mRNA abundance (count:28)

SNP	Gene	Cis/trans	Tissue	Source
rs10840112	TRIM66	cis	lymphoblastoid	seeQTL
rs10840112	LOC256273	Cis_1M	lymphoblastoid	RTeQTL
rs10840112	ASCL3	cis	parietal	SCAN
rs10840112	STK33	cis	cerebellum	SCAN
rs10840112	TRIM66	cis	Skin Sun Exposed Lower leg	GTEx
rs10840112	TRIM66	cis	Esophagus Mucosa	GTEx
rs10840112	TRIM66	Cis_1M	lymphoblastoid	RTeQTL
rs10840112	TRIM66	cis	brain	BrainEAC
rs10840112	SNORA45	cis	parietal	SCAN
rs10840112	TRIM66	cis	Artery Tibial	GTEx
rs10840112	TRIM66	cis	parietal	SCAN
rs10840112	TRIM66	cis	Artery Aorta	GTEx
rs10840112	OR52A1	cis	parietal	SCAN
rs10840112	ST5	cis	parietal	SCAN
rs10840112	TRIM66	cis	Muscle Skeletal	GTEx
rs10840112	TRIM66	cis	Nerve Tibial	GTEx
rs10840112	TRIM66	cis	Whole Blood	GTEx
rs10840112	TRIM66	cis	Esophagus Muscularis	GTEx
rs10840112	RPL27A	cis	cerebellum	SCAN
rs10840112	ADM	cis	cerebellum	SCAN
rs10840112	RPL27A	cis	parietal	SCAN
rs10840112	TRIM66	cis	Thyroid	GTEx
rs10840112	SNORA45	cis	cerebellum	SCAN
rs10840112	NRIP3	cis	cerebellum	SCAN
rs10840112	TRIM66	cis	Adipose Subcutaneous	GTEx
rs10840112	ST5	cis	cerebellum	SCAN
rs10840112	TRIM66	cis	Heart Left Ventricle	GTEx
rs10840112	TRIM66	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8709000-8711000	Active TSS	Right Ventricle	heart
2	chr11:8709400-8711000	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr11:8709400-8711400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr11:8709400-8711400	Flanking Active TSS	NH-A	brain
5	chr11:8709400-8711600	Active TSS	H9 Cell Line	embryonic stem cell
6	chr11:8709400-8711600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr11:8709600-8710800	Flanking Active TSS	Stomach Smooth Muscle	stomach
8	chr11:8709600-8711000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:8709600-8711000	Active TSS	Esophagus	oesophagus
10	chr11:8709600-8711200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr11:8709600-8711200	Active TSS	Fetal Muscle Trunk	muscle
12	chr11:8709600-8711400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr11:8709800-8710800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
14	chr11:8709800-8710800	Transcr. at gene 5' and 3'	Right Atrium	heart
15	chr11:8709800-8711000	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr11:8709800-8711000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:8709800-8711000	Active TSS	Left Ventricle	heart
18	chr11:8709800-8711000	Active TSS	Sigmoid Colon	Sigmoid Colon
19	chr11:8709800-8711000	Active TSS	Stomach Mucosa	stomach
20	chr11:8709800-8711200	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr11:8709800-8711200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:8709800-8711200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:8709800-8711200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr11:8709800-8711200	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr11:8709800-8711200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr11:8709800-8711200	Active TSS	Fetal Kidney	kidney
27	chr11:8709800-8711200	Flanking Active TSS	HMEC	breast
28	chr11:8709800-8711400	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr11:8710000-8710800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:8710000-8710800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr11:8710000-8710800	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr11:8710000-8710800	Active TSS	Gastric	stomach
33	chr11:8710000-8710800	Active TSS	Pancreas	Pancrea
34	chr11:8710000-8710800	Active TSS	Small Intestine	intestine
35	chr11:8710000-8711000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr11:8710000-8711000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:8710000-8711000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:8710000-8711000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr11:8710000-8711000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr11:8710000-8711000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr11:8710000-8711000	Active TSS	Fetal Intestine Small	intestine
42	chr11:8710000-8711000	Active TSS	Lung	lung
43	chr11:8710000-8711000	Active TSS	Ovary	ovary
44	chr11:8710000-8711000	Active TSS	Placenta Amnion	Placenta Amnion
45	chr11:8710000-8711200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr11:8710000-8711200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr11:8710000-8711200	Active TSS	Psoas Muscle	Psoas
48	chr11:8710000-8711200	Active TSS	A549	lung
49	chr11:8710000-8711200	Active TSS	GM12878-XiMat	blood
50	chr11:8710000-8711400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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