Variant report

Variant	rs3759394
Chromosome Location	chr12:120933173-120933174
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RFX5	chr12:120932894-120934099	Hela-S3	cervix:	n/a	n/a
2	MAX	chr12:120933107-120934771	A549	lung:	n/a	chr12:120933901-120933910
3	POLR2A	chr12:120932700-120934745	H1-hESC	embryonic stem cell:	n/a	n/a
4	MXI1	chr12:120932934-120935947	IMR90	lung:	n/a	n/a
5	BCL3	chr12:120933144-120934475	A549	lung:	n/a	chr12:120933889-120933898 chr12:120933499-120933508 chr12:120933856-120933869 chr12:120933891-120933904 chr12:120933843-120933856 chr12:120933497-120933510 chr12:120933890-120933903 chr12:120933888-120933901
6	HDAC2	chr12:120932842-120933288	K562	blood:	n/a	n/a
7	SIN3A	chr12:120932876-120935317	H1-hESC	embryonic stem cell:	n/a	chr12:120934139-120934152
8	POLR2A	chr12:120933045-120935783	HepG2	liver:	n/a	n/a
9	HCFC1	chr12:120932997-120934305	Hela-S3	cervix:	n/a	n/a
10	MXI1	chr12:120932687-120935994	SK-N-SH	brain:	n/a	n/a

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120932256..120933907-chr12:121163568..121165068,2	K562	blood:
2	chr12:120905836..120910535-chr12:120931936..120937198,12	MCF-7	breast:
3	chr12:120933021..120935221-chr12:120970996..120973452,2	MCF-7	breast:
4	chr12:120932502..120935417-chr12:120966408..120968984,3	MCF-7	breast:
5	chr12:120883917..120885569-chr12:120932790..120935267,2	MCF-7	breast:
6	chr12:120932975..120935609-chr12:120965561..120969430,6	K562	blood:
7	chr12:120728571..120731119-chr12:120933119..120935775,4	K562	blood:
8	chr12:120932493..120935871-chr12:120970423..120972998,4	K562	blood:
9	chr12:120727403..120732311-chr12:120930839..120935563,15	MCF-7	breast:
10	chr12:120899786..120915162-chr12:120926090..120939394,54	MCF-7	breast:
11	chr12:120905117..120912400-chr12:120930505..120935641,13	K562	blood:
12	chr12:120932523..120935512-chr12:120965345..120968367,3	MCF-7	breast:
13	chr12:120932857..120935871-chr12:120969535..120974885,9	K562	blood:
14	chr12:120882261..120885066-chr12:120932076..120935293,3	K562	blood:
15	chr12:120903651..120915747-chr12:120930491..120936868,24	K562	blood:
16	chr12:120932725..120938580-chr12:120938743..120942478,11	MCF-7	breast:
17	chr12:120729347..120730894-chr12:120930653..120933497,2	MCF-7	breast:
18	chr12:120931985..120935585-chr12:120970035..120974742,8	MCF-7	breast:

No data

Variant related genes	Relation type
DYNLL1	TF binding region
ENSG00000111786	Chromatin interaction
ENSG00000088986	Chromatin interaction
ENSG00000257218	Chromatin interaction
ENSG00000022840	Chromatin interaction
ENSG00000222601	Chromatin interaction
ENSG00000110871	Chromatin interaction
ENSG00000170855	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000122971	Chromatin interaction
ENSG00000202538	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1048830	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1050187	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10744752	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10774549	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10774551	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10774553	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10774555	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10774560	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10849753	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10849754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10849757	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849758	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849759	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10849766	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11065132	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11065145	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11065149	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065150	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11065151	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11065154	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12309824	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12370495	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12371550	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12813930	0.93[ASN][1000 genomes]
rs12814055	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1563333	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2138251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2168319	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2233676	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2235217	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2235218	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2393590	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3213565	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3742052	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3893104	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3916065	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4766966	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4766968	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4766969	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4767897	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4767902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4767903	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4767904	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4767906	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4767910	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4767911	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767912	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767914	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4767916	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs509445	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs516479	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs523522	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs524735	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs546417	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55848094	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56029862	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs579919	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs585510	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs603574	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61945857	0.94[AMR][1000 genomes]
rs643372	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs651627	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs655530	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs670568	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs687873	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7136951	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71454645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7308053	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7471	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7488320	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9040	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9788155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9795621	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs3759394	COQ5	cis	Heart Left Ventricle	GTEx
rs3759394	COQ5	cis	Muscle Skeletal	GTEx
rs3759394	COQ5	cis	Esophagus Muscularis	GTEx
rs3759394	COQ5	cis	Adipose Subcutaneous	GTEx
rs3759394	COQ5	cis	lung	GTEx
rs3759394	COQ5	cis	Skin Sun Exposed Lower leg	GTEx
rs3759394	COQ5	cis	Artery Tibial	GTEx
rs3759394	COQ5	cis	Nerve Tibial	GTEx
rs3759394	COQ5	Cis_1M	lymphoblastoid	RTeQTL
rs3759394	COQ5	cis	Artery Aorta	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120908200-120933200	Weak transcription	Aorta	Aorta
2	chr12:120929600-120933200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:120932400-120934000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:120932600-120933200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr12:120932600-120933200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr12:120932600-120933200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:120932600-120933200	Flanking Active TSS	Fetal Kidney	kidney
8	chr12:120932600-120933200	Flanking Active TSS	Fetal Lung	lung
9	chr12:120932600-120933200	Flanking Active TSS	GM12878-XiMat	blood
10	chr12:120932600-120933200	Flanking Active TSS	HMEC	breast
11	chr12:120932600-120933200	Flanking Active TSS	NHDF-Ad	bronchial
12	chr12:120932600-120933200	Flanking Active TSS	NHEK	skin
13	chr12:120932600-120933400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr12:120932600-120933400	Flanking Active TSS	Hela-S3	cervix
15	chr12:120932600-120933400	Flanking Active TSS	K562	blood
16	chr12:120932600-120935000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:120932600-120935200	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr12:120932600-120935400	Active TSS	H1 Cell Line	embryonic stem cell
19	chr12:120932600-120935400	Active TSS	H9 Cell Line	embryonic stem cell
20	chr12:120932600-120935400	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr12:120932800-120933200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:120932800-120933200	Enhancers	Primary B cells from peripheral blood	blood
23	chr12:120932800-120933200	Enhancers	Primary T cells from cord blood	blood
24	chr12:120932800-120933200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr12:120932800-120933200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr12:120932800-120933200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr12:120932800-120933200	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr12:120932800-120933200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr12:120932800-120933200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr12:120932800-120933200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:120932800-120933200	Enhancers	Liver	Liver
32	chr12:120932800-120933200	Flanking Active TSS	Brain Anterior Caudate	brain
33	chr12:120932800-120933200	Flanking Active TSS	Brain Hippocampus Middle	brain
34	chr12:120932800-120933200	Flanking Active TSS	HepG2	liver
35	chr12:120932800-120933200	Flanking Active TSS	NHLF	lung
36	chr12:120932800-120933400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:120932800-120933400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:120932800-120933400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:120932800-120933400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr12:120932800-120933400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr12:120932800-120933400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr12:120932800-120933400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr12:120932800-120933400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr12:120932800-120933400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr12:120932800-120933400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr12:120932800-120933400	Flanking Active TSS	Brain Germinal Matrix	brain
47	chr12:120932800-120933400	Flanking Active TSS	Colon Smooth Muscle	Colon
48	chr12:120932800-120933400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr12:120932800-120933400	Flanking Active TSS	Fetal Brain Female	brain
50	chr12:120932800-120933400	Flanking Active TSS	Fetal Heart	heart

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