Variant report

Variant	rs4766968
Chromosome Location	chr12:120947788-120947789
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:120933828..120935998-chr12:120945788..120947928,2	MCF-7	breast:
2	chr12:120932818..120934979-chr12:120946280..120948888,2	MCF-7	breast:
3	chr12:120947757..120949542-chr12:120952096..120954671,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110871	Chromatin interaction
ENSG00000088986	Chromatin interaction
ENSG00000248008	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs1048830	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1050187	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10744752	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10774549	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10774551	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10774553	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10774555	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10774560	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10774561	0.83[EUR][1000 genomes]
rs10849753	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10849754	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10849757	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10849758	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10849759	0.96[CEU][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10849766	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10849767	0.82[EUR][1000 genomes]
rs11065132	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11065145	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11065149	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11065150	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11065151	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11065154	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12309824	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12312613	0.82[EUR][1000 genomes]
rs12370495	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12371550	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12813930	0.92[ASN][1000 genomes]
rs12814055	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1563333	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2138251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2168319	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2233676	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2235217	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2235218	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2292681	0.91[YRI][hapmap]
rs2393590	0.91[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3213565	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3742052	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3759394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3759396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3893104	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3916065	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4766966	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4766969	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4767897	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4767902	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4767903	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4767904	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4767905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4767906	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4767910	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4767911	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4767912	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4767914	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4767916	0.87[CEU][hapmap];0.91[YRI][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs509445	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs516479	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs523522	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs524735	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs546417	0.82[YRI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55848094	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56029862	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs579919	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs585510	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs603574	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs608724	0.91[YRI][hapmap]
rs61945857	0.94[AMR][1000 genomes]
rs643372	0.94[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs651627	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs655530	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs670568	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs687873	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7136951	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71454645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7308053	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7471	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7488320	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs787947	0.91[YRI][hapmap]
rs9040	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9788155	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9795621	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs4766968	COQ5	cis	Nerve Tibial	GTEx
rs4766968	COQ5	cis	Temporal Cortex	GTEx
rs4766968	COQ5	cis	lung	GTEx
rs4766968	COQ5	cis	multi-tissue	Pritchard
rs4766968	COQ5	cis	Adipose Subcutaneous	GTEx
rs4766968	COQ5	Cis_1M	lymphoblastoid	RTeQTL
rs4766968	COQ5	cis	Frontal Cortex	GTEx
rs4766968	COQ5	cis	Muscle Skeletal	GTEx
rs4766968	COQ5	cis	Artery Aorta	GTEx
rs4766968	COQ5	cis	Heart Left Ventricle	GTEx
rs4766968	COQ5	cis	Esophagus Muscularis	GTEx
rs4766968	COQ5	cis	Skin Sun Exposed Lower leg	GTEx
rs4766968	COQ5	cis	Artery Tibial	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120935200-120951400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:120935200-120966200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:120935600-120966200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr12:120935800-120951800	Weak transcription	Esophagus	oesophagus
5	chr12:120935800-120953400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr12:120936000-120955200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:120936000-120964200	Strong transcription	Fetal Muscle Trunk	muscle
8	chr12:120936400-120963800	Weak transcription	Hela-S3	cervix
9	chr12:120936400-120966000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:120936400-120966200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr12:120936600-120949600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr12:120936600-120954800	Strong transcription	Adipose Nuclei	Adipose
13	chr12:120936800-120956600	Weak transcription	Stomach Mucosa	stomach
14	chr12:120937000-120951800	Weak transcription	NH-A	brain
15	chr12:120937200-120966000	Weak transcription	Psoas Muscle	Psoas
16	chr12:120937600-120963600	Strong transcription	Fetal Intestine Small	intestine
17	chr12:120938000-120953200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:120939800-120951800	Weak transcription	Fetal Brain Male	brain
19	chr12:120940400-120948800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:120940600-120957400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:120941000-120950600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:120941800-120964000	Weak transcription	HUVEC	blood vessel
23	chr12:120942000-120951800	Weak transcription	NHLF	lung
24	chr12:120942000-120962600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr12:120942400-120959800	Weak transcription	Fetal Kidney	kidney
26	chr12:120942800-120949200	Weak transcription	Primary B cells from cord blood	blood
27	chr12:120942800-120966200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:120943000-120947800	Weak transcription	HSMM	muscle
29	chr12:120943000-120954800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:120943000-120958400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr12:120943000-120963800	Weak transcription	K562	blood
32	chr12:120943000-120966200	Weak transcription	Fetal Heart	heart
33	chr12:120943200-120951800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr12:120943200-120953000	Weak transcription	Primary hematopoietic stem cells	blood
35	chr12:120944200-120947800	Weak transcription	GM12878-XiMat	blood
36	chr12:120945400-120949600	Strong transcription	Lung	lung
37	chr12:120945400-120950200	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr12:120945600-120948200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr12:120945600-120949000	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr12:120945600-120949600	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr12:120945600-120949600	Strong transcription	Stomach Smooth Muscle	stomach
42	chr12:120945600-120950000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:120945600-120955200	Strong transcription	Liver	Liver
44	chr12:120945600-120956200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr12:120945600-120962000	Strong transcription	Fetal Muscle Leg	muscle
46	chr12:120945800-120947800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr12:120945800-120948000	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr12:120945800-120948000	Strong transcription	Brain Substantia Nigra	brain
49	chr12:120945800-120948000	Strong transcription	Pancreas	Pancrea
50	chr12:120945800-120948400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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