Variant report

Variant	rs4766969
Chromosome Location	chr12:120988238-120988239
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:59)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:59 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SMC3	chr12:120987998-120988413	HepG2	liver:	n/a	n/a
2	FOXA1	chr12:120987924-120988521	HepG2	liver:	n/a	n/a
3	FOXA1	chr12:120987858-120988569	HepG2	liver:	n/a	n/a
4	TEAD4	chr12:120988175-120988447	HepG2	liver:	n/a	n/a
5	CEBPB	chr12:120988095-120988464	A549	lung:	n/a	n/a
6	FOXA1	chr12:120988076-120988531	HepG2	liver:	n/a	n/a
7	MAZ	chr12:120987908-120988248	K562	blood:	n/a	n/a
8	CEBPB	chr12:120988224-120988463	HepG2	liver:	n/a	n/a
9	MAX	chr12:120987785-120988506	HepG2	liver:	n/a	n/a
10	TCF12	chr12:120987896-120988602	A549	lung:	n/a	n/a
11	NR2F2	chr12:120987812-120988502	HepG2	liver:	n/a	n/a
12	POLR2A	chr12:120988092-120988272	K562	blood:	n/a	n/a
13	ELF1	chr12:120987883-120988481	HepG2	liver:	n/a	chr12:120988131-120988144
14	ELF1	chr12:120987948-120988317	K562	blood:	n/a	chr12:120988131-120988144
15	NFIC	chr12:120987850-120988520	HepG2	liver:	n/a	n/a
16	CEBPB	chr12:120988131-120988437	HepG2	liver:	n/a	n/a
17	FOXA1	chr12:120987895-120988576	HepG2	liver:	n/a	n/a
18	MYBL2	chr12:120987963-120988522	HepG2	liver:	n/a	n/a
19	FOXA2	chr12:120987942-120988480	HepG2	liver:	n/a	n/a
20	MXI1	chr12:120987819-120988549	HepG2	liver:	n/a	n/a
21	SP1	chr12:120987931-120988508	HepG2	liver:	n/a	n/a
22	CEBPB	chr12:120987973-120988531	HepG2	liver:	n/a	n/a
23	RAD21	chr12:120988132-120988382	HepG2	liver:	n/a	n/a
24	ARID3A	chr12:120987832-120988497	HepG2	liver:	n/a	n/a
25	MAX	chr12:120987872-120988446	HepG2	liver:	n/a	n/a
26	SP1	chr12:120987893-120988523	A549	lung:	n/a	n/a
27	MAFF	chr12:120988160-120988400	HepG2	liver:	n/a	n/a
28	EP300	chr12:120987895-120988561	HepG2	liver:	n/a	n/a
29	NFIC	chr12:120987912-120988547	HepG2	liver:	n/a	n/a
30	RXRA	chr12:120987791-120988496	HepG2	liver:	n/a	n/a
31	MYBL2	chr12:120987809-120988601	HepG2	liver:	n/a	n/a
32	EP300	chr12:120987913-120988572	HepG2	liver:	n/a	n/a
33	POLR2A	chr12:120987878-120988256	GM12878	blood:	n/a	n/a
34	CEBPB	chr12:120988189-120988452	IMR90	lung:	n/a	n/a
35	CEBPB	chr12:120987944-120988542	HepG2	liver:	n/a	n/a
36	CHD2	chr12:120988195-120988390	HepG2	liver:	n/a	n/a
37	HNF4G	chr12:120988201-120988475	HepG2	liver:	n/a	chr12:120988360-120988368
38	MAFK	chr12:120988037-120988498	HepG2	liver:	n/a	n/a
39	TEAD4	chr12:120988157-120988497	A549	lung:	n/a	n/a
40	RXRA	chr12:120987931-120988498	HepG2	liver:	n/a	n/a
41	HDAC2	chr12:120987918-120988546	HepG2	liver:	n/a	n/a
42	POLR2A	chr12:120987721-120988388	HepG2	liver:	n/a	n/a
43	NR2F2	chr12:120987772-120988523	HepG2	liver:	n/a	n/a
44	TEAD4	chr12:120988047-120988476	A549	lung:	n/a	n/a
45	ELF1	chr12:120987878-120988504	HepG2	liver:	n/a	chr12:120988131-120988144
46	MAX	chr12:120987827-120988484	A549	lung:	n/a	n/a
47	MYC	chr12:120988003-120988397	HepG2	liver:	n/a	n/a
48	RCOR1	chr12:120987967-120988418	HepG2	liver:	n/a	n/a
49	POLR2A	chr12:120988073-120988390	HepG2	liver:	n/a	n/a
50	MBD4	chr12:120987905-120988473	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120986321..120988616-chr12:120990306..120992869,4	MCF-7	breast:
2	chr12:120974437..120977304-chr12:120987855..120989624,2	K562	blood:
3	chr12:120728975..120731075-chr12:120985391..120988304,2	K562	blood:
4	chr12:120881393..120884283-chr12:120987763..120989984,2	MCF-7	breast:
5	chr12:120986628..120988367-chr12:120995185..120997515,2	K562	blood:
6	chr12:120971071..120973641-chr12:120986668..120988897,2	MCF-7	breast:

No data

Variant related genes	Relation type
RNF10	TF binding region
ENSG00000022840	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000257218	Chromatin interaction
ENSG00000110871	Chromatin interaction
ENSG00000170855	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	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1050187	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10744752	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10774549	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10774551	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10774553	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10774555	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10774560	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10774561	0.85[EUR][1000 genomes]
rs10849753	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10849754	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10849757	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10849758	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10849759	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10849766	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10849767	0.84[EUR][1000 genomes]
rs11065132	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11065145	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11065149	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11065150	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11065151	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11065154	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12309824	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12312613	0.84[EUR][1000 genomes]
rs12370495	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12371550	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12813930	0.92[ASN][1000 genomes]
rs12814055	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1563333	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2138251	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2168319	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2233676	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2235217	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2235218	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2393590	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3213565	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3742052	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3759394	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3759396	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3893104	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3916065	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4766966	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4766968	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4767897	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4767902	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4767903	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4767904	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4767905	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4767906	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4767910	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4767911	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4767912	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4767914	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4767916	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs509445	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs516479	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs523522	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs524735	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs546417	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55848094	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56029862	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs579919	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs585510	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs603574	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945857	0.87[AMR][1000 genomes]
rs643372	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs651627	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs655530	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs670568	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs687873	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7136951	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71454645	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7308053	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7471	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7488320	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9040	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9788155	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9795621	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[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	nsv906	chr12:120973683-121018441	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs4766969	COQ5	cis	Esophagus Muscularis	GTEx
rs4766969	COQ5	cis	Artery Tibial	GTEx
rs4766969	COQ5	cis	lung	GTEx
rs4766969	COQ5	cis	Artery Aorta	GTEx
rs4766969	COQ5	cis	Nerve Tibial	GTEx
rs4766969	COQ5	cis	Heart Left Ventricle	GTEx
rs4766969	COQ5	cis	Muscle Skeletal	GTEx
rs4766969	COQ5	cis	Adipose Subcutaneous	GTEx
rs4766969	COQ5	Cis_1M	lymphoblastoid	RTeQTL
rs4766969	COQ5	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120976000-121018000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:120976400-121018200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:120977400-120995600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:120977400-121017600	Strong transcription	Fetal Thymus	thymus
5	chr12:120977400-121018200	Strong transcription	Fetal Stomach	stomach
6	chr12:120977600-121016800	Strong transcription	Dnd41	blood
7	chr12:120977800-120988400	Strong transcription	Primary B cells from peripheral blood	blood
8	chr12:120981200-120988400	Strong transcription	NHEK	skin
9	chr12:120982200-120988400	Strong transcription	HSMM	muscle
10	chr12:120982200-121017600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:120983400-120990200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr12:120983400-120990200	Strong transcription	Fetal Muscle Leg	muscle
13	chr12:120983600-120988400	Strong transcription	Primary T cells from cord blood	blood
14	chr12:120983600-120988800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr12:120983600-120989000	Strong transcription	GM12878-XiMat	blood
16	chr12:120983600-121017600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:120983600-121017600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr12:120983600-121017800	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr12:120983600-121017800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr12:120983600-121017800	Strong transcription	Fetal Muscle Trunk	muscle
21	chr12:120983800-120988600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr12:120983800-121017800	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr12:120983800-121017800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:120984000-120988600	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr12:120984000-120988600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr12:120984000-120989200	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr12:120984000-120995000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:120984000-120996000	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr12:120984000-121017800	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr12:120984000-121017800	Strong transcription	Fetal Intestine Large	intestine
31	chr12:120984000-121017800	Strong transcription	Thymus	Thymus
32	chr12:120984000-121018200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr12:120984200-120988400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr12:120984200-120988400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
35	chr12:120984200-120996000	Strong transcription	Placenta Amnion	Placenta Amnion
36	chr12:120984200-121017400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:120984400-120996800	Strong transcription	Fetal Brain Female	brain
38	chr12:120984400-121018000	Strong transcription	Brain Germinal Matrix	brain
39	chr12:120984600-120988600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
40	chr12:120984600-120992000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:120984800-120989800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr12:120984800-120995600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr12:120985200-120988400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
44	chr12:120985600-120992000	Weak transcription	Aorta	Aorta
45	chr12:120985600-121000800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr12:120985600-121018200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr12:120985800-120992200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr12:120985800-120992400	Weak transcription	Fetal Heart	heart
49	chr12:120986200-120989400	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr12:120986400-120990200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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