Variant report

Variant	rs11065120
Chromosome Location	chr12:120875456-120875457
allele	C/T
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	POLR2A	chr12:120875338-120876317	U87	brain:	n/a	n/a
2	MAX	chr12:120875439-120876060	A549	lung:	n/a	n/a
3	POLR2A	chr12:120875410-120876251	H1-neurons	neurons:	n/a	n/a
4	SIX5	chr12:120875238-120875995	A549	lung:	n/a	n/a
5	POLR2A	chr12:120875360-120876073	SK-N-SH	brain:	n/a	n/a
6	CHD1	chr12:120875284-120876076	GM12878	blood:	n/a	n/a
7	POLR2A	chr12:120875379-120876130	HepG2	liver:	n/a	n/a
8	POLR2A	chr12:120875347-120876366	GM12878	blood:	n/a	n/a
9	POLR2A	chr12:120875399-120876296	K562	blood:	n/a	n/a
10	TBP	chr12:120875455-120876072	GM12878	blood:	n/a	n/a
11	MAX	chr12:120875441-120876060	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr12:120875328-120876181	HCT-116	colon:	n/a	n/a
13	TEAD4	chr12:120875235-120876163	K562	blood:	n/a	n/a
14	SIN3AK20	chr12:120875162-120876520	MCF-7	breast:	n/a	n/a
15	POLR2A	chr12:120875451-120876262	Gliobla	brain:	n/a	n/a
16	HCFC1	chr12:120875383-120876115	K562	blood:	n/a	n/a
17	RFX5	chr12:120875320-120876087	Hela-S3	cervix:	n/a	chr12:120875613-120875628
18	POLR2A	chr12:120875362-120876544	HepG2	liver:	n/a	n/a
19	REST	chr12:120875163-120876157	A549	lung:	n/a	n/a
20	ELF1	chr12:120875245-120876216	MCF-7	breast:	n/a	chr12:120875893-120875902 chr12:120875898-120875907
21	USF1	chr12:120875371-120875903	A549	lung:	n/a	n/a
22	PML	chr12:120875419-120876154	K562	blood:	n/a	n/a
23	MYBL2	chr12:120875324-120876157	HepG2	liver:	n/a	n/a
24	POLR2A	chr12:120875413-120876243	HUVEC	blood vessel:	n/a	n/a
25	POLR2A	chr12:120875437-120876192	A549	lung:	n/a	n/a
26	POLR2A	chr12:120875449-120876138	GM10847	blood:	n/a	n/a
27	MAX	chr12:120875416-120875990	H1-hESC	embryonic stem cell:	n/a	n/a
28	IRF1	chr12:120875321-120876104	K562	blood:	n/a	n/a
29	RCOR1	chr12:120875352-120876056	K562	blood:	n/a	n/a
30	YY1	chr12:120875451-120876500	A549	lung:	n/a	chr12:120875832-120875841
31	TAF1	chr12:120875334-120876287	ECC-1	luminal epithelium:	n/a	n/a
32	JUND	chr12:120875429-120876139	K562	blood:	n/a	chr12:120875847-120875856
33	YY1	chr12:120875409-120876155	H1-hESC	embryonic stem cell:	n/a	chr12:120875832-120875841
34	POLR2A	chr12:120875415-120876219	GM12878	blood:	n/a	n/a
35	GABPA	chr12:120875455-120876194	HL-60	blood:	n/a	chr12:120875695-120875709 chr12:120875695-120875706 chr12:120875895-120875902 chr12:120875697-120875706
36	YY1	chr12:120875419-120876580	SK-N-SH	brain:	n/a	chr12:120875832-120875841
37	GABPA	chr12:120875255-120876345	HL-60	blood:	n/a	chr12:120875695-120875709 chr12:120875695-120875706 chr12:120875895-120875902 chr12:120875697-120875706
38	MYC	chr12:120875436-120876171	NB4	blood:	n/a	n/a
39	POLR2A	chr12:120875444-120876201	Hela-S3	cervix:	n/a	n/a
40	MAX	chr12:120875272-120876637	A549	lung:	n/a	n/a
41	YY1	chr12:120875388-120876223	H1-hESC	embryonic stem cell:	n/a	chr12:120875832-120875841
42	POLR2A	chr12:120875370-120876228	PBDE	blood:	n/a	n/a
43	POLR2A	chr12:120875298-120876193	HL-60	blood:	n/a	n/a
44	POLR2A	chr12:120875302-120876425	K562	blood:	n/a	n/a
45	POLR2A	chr12:120875363-120876388	H1-hESC	embryonic stem cell:	n/a	n/a
46	REST	chr12:120875455-120876083	SK-N-SH	brain:	n/a	n/a
47	POLR2A	chr12:120875431-120876194	NB4	blood:	n/a	n/a
48	ATF2	chr12:120875436-120875965	GM12878	blood:	n/a	n/a
49	MAX	chr12:120875398-120876206	ECC-1	luminal epithelium:	n/a	n/a
50	YY1	chr12:120875443-120876266	GM12892	blood:	n/a	chr12:120875832-120875841

No.	Distal block	Cell Line	Cell type
1	chr12:120728080..120732301-chr12:120874297..120877936,6	K562	blood:
2	chr12:120873907..120875736-chr12:120904532..120906530,2	MCF-7	breast:
3	chr12:120728565..120730817-chr12:120874965..120877227,3	MCF-7	breast:
4	chr12:120638719..120641136-chr12:120874234..120877493,3	K562	blood:
5	chr12:120874293..120875832-chr12:120907401..120908923,2	K562	blood:
6	chr12:120727155..120732265-chr12:120871900..120878042,6	MCF-7	breast:
7	chr12:120874999..120877444-chr12:120972685..120975166,2	K562	blood:
8	chr12:120798208..120800958-chr12:120872318..120875660,3	MCF-7	breast:
9	chr12:120728477..120731826-chr12:120874371..120876435,3	K562	blood:
10	chr12:120874293..120878054-chr12:120905643..120908923,7	K562	blood:
11	chr12:120638809..120640383-chr12:120873951..120876140,2	K562	blood:

Variant related genes	Relation type
ENSG00000111780	TF binding region
COX6A1	TF binding region
ENSG00000089157	Chromatin interaction
ENSG00000111786	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000135097	Chromatin interaction
ENSG00000088986	Chromatin interaction
ENSG00000022840	Chromatin interaction
ENSG00000255857	Chromatin interaction
ENSG00000200795	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10849749	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12229097	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34285891	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57943218	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7132474	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73221357	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7970933	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs11065120	COQ5	cis	Esophagus Muscularis	GTEx
rs11065120	COQ5	Cis_1M	lymphoblastoid	RTeQTL
rs11065120	COQ5	cis	Artery Tibial	GTEx
rs11065120	COQ5	cis	lung	GTEx
rs11065120	COQ5	cis	Skin Sun Exposed Lower leg	GTEx
rs11065120	COQ5	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120875000-120875600	Flanking Active TSS	Dnd41	blood
2	chr12:120875200-120875600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:120875200-120875600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr12:120875200-120875600	Flanking Active TSS	Primary B cells from peripheral blood	blood
5	chr12:120875200-120875600	Flanking Active TSS	Primary T cells from cord blood	blood
6	chr12:120875200-120875600	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr12:120875200-120875600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr12:120875200-120875600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
9	chr12:120875200-120875600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
10	chr12:120875200-120875600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
11	chr12:120875200-120875600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
12	chr12:120875200-120875600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr12:120875200-120875600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
14	chr12:120875200-120875600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
15	chr12:120875200-120875600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
16	chr12:120875200-120875600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:120875200-120875600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:120875200-120875600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:120875200-120875600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr12:120875200-120875600	Flanking Active TSS	Liver	Liver
21	chr12:120875200-120875600	Flanking Active TSS	Brain Angular Gyrus	brain
22	chr12:120875200-120875600	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr12:120875200-120875600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
24	chr12:120875200-120875600	Flanking Active TSS	Fetal Thymus	thymus
25	chr12:120875200-120875600	Flanking Active TSS	Thymus	Thymus
26	chr12:120875200-120875600	Flanking Active TSS	GM12878-XiMat	blood
27	chr12:120875200-120875600	Flanking Active TSS	Hela-S3	cervix
28	chr12:120875200-120875600	Flanking Active TSS	HUVEC	blood vessel
29	chr12:120875200-120875600	Flanking Active TSS	NH-A	brain
30	chr12:120875200-120875600	Flanking Active TSS	NHEK	skin
31	chr12:120875200-120875600	Flanking Active TSS	Osteobl	bone
32	chr12:120875200-120875800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
33	chr12:120875200-120875800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr12:120875200-120875800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
35	chr12:120875200-120875800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr12:120875200-120875800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:120875200-120875800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:120875200-120875800	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr12:120875200-120875800	Flanking Active TSS	Fetal Brain Male	brain
40	chr12:120875200-120875800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr12:120875200-120875800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr12:120875200-120876000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
43	chr12:120875200-120876000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr12:120875200-120876200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr12:120875200-120876400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr12:120875200-120876400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:120875200-120876400	Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr12:120875200-120876400	Active TSS	Muscle Satellite Cultured Cells	--
49	chr12:120875200-120876400	Active TSS	Brain Anterior Caudate	brain
50	chr12:120875200-120876400	Active TSS	Brain Cingulate Gyrus	brain

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