Variant report

Variant	rs11065132
Chromosome Location	chr12:120908459-120908460
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr12:120906106-120908533	K562	blood:	n/a	chr12:120906131-120906140
2	MXI1	chr12:120905869-120908464	SK-N-SH	brain:	n/a	n/a
3	CBX3	chr12:120907365-120908555	K562	blood:	n/a	n/a
4	YY1	chr12:120907185-120908558	K562	blood:	n/a	chr12:120907617-120907631 chr12:120907871-120907882
5	NR2F2	chr12:120907305-120908573	K562	blood:	n/a	n/a
6	POLR2A	chr12:120906105-120908566	K562	blood:	n/a	n/a
7	GTF3C2	chr12:120907052-120908736	K562	blood:	n/a	n/a
8	UBTF	chr12:120906138-120908544	K562	blood:	n/a	n/a
9	YY1	chr12:120908173-120908502	K562	blood:	n/a	n/a
10	KAP1	chr12:120907387-120908509	HEK293	kidney:	n/a	n/a
11	POLR2A	chr12:120907055-120908796	HepG2	liver:	n/a	n/a

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120906126..120908752-chr12:120971938..120973464,2	MCF-7	breast:
2	chr12:120881316..120885805-chr12:120906046..120909209,6	MCF-7	breast:
3	chr12:120874293..120878054-chr12:120905643..120908923,7	K562	blood:
4	chr12:120727751..120732241-chr12:120903536..120914205,12	MCF-7	breast:
5	chr12:120727396..120732537-chr12:120902983..120911236,13	K562	blood:
6	chr12:120905762..120908724-chr12:120970875..120974820,5	MCF-7	breast:
7	chr12:120903651..120915747-chr12:120930491..120936868,24	K562	blood:
8	chr12:120726465..120732980-chr12:120904767..120910057,7	MCF-7	breast:
9	chr12:120905836..120910535-chr12:120931936..120937198,12	MCF-7	breast:
10	chr12:120908111..120912110-chr12:120923123..120927882,5	K562	blood:
11	chr12:120907343..120910344-chr12:120965426..120968868,4	K562	blood:
12	chr12:120905972..120909439-chr12:120965576..120970322,8	MCF-7	breast:
13	chr12:120899786..120915162-chr12:120926090..120939394,54	MCF-7	breast:
14	chr12:120880802..120886804-chr12:120903895..120909908,12	K562	blood:
15	chr12:120803547..120806395-chr12:120907093..120909089,2	MCF-7	breast:
16	chr12:120905117..120912400-chr12:120930505..120935641,13	K562	blood:
17	chr12:120882658..120886022-chr12:120906198..120909157,4	MCF-7	breast:
18	chr12:120905043..120908623-chr12:120970585..120973644,4	K562	blood:
19	chr12:120879789..120885007-chr12:120906681..120910772,6	K562	blood:

No data

Variant related genes	Relation type
SRSF9	TF binding region
ENSG00000110871	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000111775	Chromatin interaction
ENSG00000257218	Chromatin interaction
ENSG00000088986	Chromatin interaction
ENSG00000022840	Chromatin interaction
ENSG00000111780	Chromatin interaction
ENSG00000135097	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000170855	Chromatin interaction
ENSG00000248008	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs1048830	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1050187	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10744752	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10774549	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10774551	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10774553	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10774555	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10774560	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10849749	0.81[ASN][1000 genomes]
rs10849753	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849754	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10849757	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10849758	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10849759	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10849766	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11065145	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11065149	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11065150	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11065151	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11065154	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12309824	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12370495	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12371550	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12813930	0.88[ASN][1000 genomes]
rs12814055	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1563333	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2138251	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2168319	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2233676	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2235217	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2235218	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2393590	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3213565	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3742052	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3759394	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3759396	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3893104	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3916065	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4766966	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4766968	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4766969	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4767897	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4767902	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767903	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4767904	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4767905	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4767906	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4767910	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4767911	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4767912	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4767914	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4767916	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs509445	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs516479	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs523522	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs524735	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs546417	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55848094	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56029862	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs579919	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs585510	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs603574	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61945857	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs643372	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs651627	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs655530	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs670568	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs687873	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7132474	0.81[ASN][1000 genomes]
rs7136951	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71454645	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7308053	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73221357	0.82[ASN][1000 genomes]
rs7471	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7488320	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9040	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9788155	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9795621	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3406081	chr12:120906094-120908942	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs11065132	COQ5	cis	Muscle Skeletal	GTEx
rs11065132	COQ5	cis	Artery Aorta	GTEx
rs11065132	COQ5	cis	Nerve Tibial	GTEx
rs11065132	COQ5	cis	Heart Left Ventricle	GTEx
rs11065132	COQ5	cis	Artery Tibial	GTEx
rs11065132	COQ5	cis	Adipose Subcutaneous	GTEx
rs11065132	COQ5	cis	lung	GTEx
rs11065132	COQ5	cis	Esophagus Muscularis	GTEx
rs11065132	COQ5	cis	Skin Sun Exposed Lower leg	GTEx
rs11065132	COQ5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120905600-120908600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr12:120905800-120908600	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr12:120905800-120908600	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr12:120905800-120908600	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr12:120906000-120908600	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr12:120906200-120908600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:120906400-120909400	Active TSS	K562	blood
8	chr12:120907800-120908600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:120907800-120908600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
10	chr12:120907800-120908600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr12:120907800-120908600	Flanking Active TSS	Fetal Brain Female	brain
12	chr12:120907800-120908600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr12:120907800-120908600	Flanking Active TSS	HMEC	breast
14	chr12:120907800-120908800	Flanking Active TSS	Dnd41	blood
15	chr12:120908000-120908600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:120908000-120908600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:120908000-120908600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr12:120908000-120908600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:120908000-120908600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:120908000-120908600	Flanking Active TSS	Brain Cingulate Gyrus	brain
21	chr12:120908000-120908600	Flanking Active TSS	Brain Hippocampus Middle	brain
22	chr12:120908000-120908600	Flanking Active TSS	Esophagus	oesophagus
23	chr12:120908000-120908600	Flanking Active TSS	Fetal Muscle Leg	muscle
24	chr12:120908000-120908600	Enhancers	Small Intestine	intestine
25	chr12:120908000-120908600	Flanking Active TSS	GM12878-XiMat	blood
26	chr12:120908000-120908600	Flanking Active TSS	NHLF	lung
27	chr12:120908200-120908600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr12:120908200-120908600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr12:120908200-120908600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:120908200-120908600	Enhancers	Primary B cells from peripheral blood	blood
31	chr12:120908200-120908600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:120908200-120908600	Enhancers	Ovary	ovary
33	chr12:120908200-120908600	Enhancers	Pancreas	Pancrea
34	chr12:120908200-120908600	Flanking Active TSS	Thymus	Thymus
35	chr12:120908200-120908600	Enhancers	Spleen	Spleen
36	chr12:120908200-120908800	Enhancers	Stomach Mucosa	stomach
37	chr12:120908200-120909200	Enhancers	Placenta Amnion	Placenta Amnion
38	chr12:120908200-120933200	Weak transcription	Aorta	Aorta
39	chr12:120908400-120908600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:120908400-120908600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:120908400-120908600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:120908400-120908600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr12:120908400-120908600	Enhancers	Primary B cells from cord blood	blood
44	chr12:120908400-120908600	Enhancers	Primary hematopoietic stem cells	blood
45	chr12:120908400-120908600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr12:120908400-120908600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr12:120908400-120908600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr12:120908400-120908600	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr12:120908400-120908600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr12:120908400-120908600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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