Variant report

Variant	rs4767906
Chromosome Location	chr12:120943650-120943651
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:120932676..120936619-chr12:120942737..120946468,3	K562	blood:
2	chr12:120903724..120908002-chr12:120939821..120944385,4	MCF-7	breast:
3	chr12:120936907..120938548-chr12:120942568..120944463,2	MCF-7	breast:
4	chr12:120933177..120935963-chr12:120940341..120945552,6	K562	blood:
5	chr12:120934924..120937687-chr12:120943094..120944631,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111786	Chromatin interaction
ENSG00000088986	Chromatin interaction
ENSG00000248008	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 10 )

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

rs_ID	r²[population]
rs1048830	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1050187	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10744752	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10774549	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10774551	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10774553	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10774555	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10774560	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10774561	0.82[EUR][1000 genomes]
rs10849753	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[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];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10849758	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10849759	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10849766	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10849767	0.81[EUR][1000 genomes]
rs11065132	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11065145	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11065149	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11065150	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11065151	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11065154	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12309824	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12312613	0.81[EUR][1000 genomes]
rs12370495	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12371550	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12813930	0.92[ASN][1000 genomes]
rs12814055	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1563333	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2138251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2168319	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2233676	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2235217	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[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];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3213565	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3742052	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3759394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3759396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3893104	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3916065	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4766966	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4766968	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4766969	0.93[AMR][1000 genomes];0.95[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[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4767903	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4767904	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4767905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4767910	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4767911	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4767912	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4767914	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4767916	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs509445	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs516479	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs523522	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs524735	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs546417	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55848094	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56029862	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs579919	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs585510	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs603574	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61945857	0.94[AMR][1000 genomes]
rs643372	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs651627	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs655530	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs670568	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs687873	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7136951	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71454645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7308053	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7471	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7488320	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9040	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[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];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs4767906	COQ5	cis	Muscle Skeletal	GTEx
rs4767906	COQ5	cis	Skin Sun Exposed Lower leg	GTEx
rs4767906	COQ5	Cis_1M	lymphoblastoid	RTeQTL
rs4767906	COQ5	cis	Esophagus Muscularis	GTEx
rs4767906	COQ5	cis	Artery Tibial	GTEx
rs4767906	COQ5	cis	lung	GTEx
rs4767906	COQ5	cis	Adipose Subcutaneous	GTEx
rs4767906	COQ5	cis	Heart Left Ventricle	GTEx
rs4767906	COQ5	cis	Artery Aorta	GTEx
rs4767906	COQ5	cis	Nerve Tibial	GTEx

Chromatin state (count:125 , 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	chr12:120935400-120945800	Weak transcription	Pancreas	Pancrea
4	chr12:120935600-120966200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr12:120935800-120947000	Weak transcription	Aorta	Aorta
6	chr12:120935800-120951800	Weak transcription	Esophagus	oesophagus
7	chr12:120935800-120953400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr12:120936000-120944200	Strong transcription	Left Ventricle	heart
9	chr12:120936000-120944800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:120936000-120947000	Weak transcription	Colonic Mucosa	Colon
11	chr12:120936000-120947200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:120936000-120955200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:120936000-120964200	Strong transcription	Fetal Muscle Trunk	muscle
14	chr12:120936400-120963800	Weak transcription	Hela-S3	cervix
15	chr12:120936400-120966000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr12:120936400-120966200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr12:120936600-120949600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr12:120936600-120954800	Strong transcription	Adipose Nuclei	Adipose
19	chr12:120936800-120944600	Strong transcription	Fetal Muscle Leg	muscle
20	chr12:120936800-120956600	Weak transcription	Stomach Mucosa	stomach
21	chr12:120937000-120944400	Strong transcription	Fetal Stomach	stomach
22	chr12:120937000-120951800	Weak transcription	NH-A	brain
23	chr12:120937200-120945800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr12:120937200-120966000	Weak transcription	Psoas Muscle	Psoas
25	chr12:120937600-120963600	Strong transcription	Fetal Intestine Small	intestine
26	chr12:120938000-120944800	Strong transcription	Liver	Liver
27	chr12:120938000-120953200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr12:120938400-120944800	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr12:120938800-120944000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:120938800-120944000	Strong transcription	Lung	lung
31	chr12:120938800-120944800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:120939000-120946800	Weak transcription	NHDF-Ad	bronchial
33	chr12:120939200-120943800	Strong transcription	Fetal Thymus	thymus
34	chr12:120939200-120944000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:120939200-120944600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr12:120939400-120946000	Weak transcription	Small Intestine	intestine
37	chr12:120939800-120951800	Weak transcription	Fetal Brain Male	brain
38	chr12:120940400-120944200	Strong transcription	Primary B cells from peripheral blood	blood
39	chr12:120940400-120948800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:120940600-120944000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:120940600-120944400	Strong transcription	Right Ventricle	heart
42	chr12:120940600-120944400	Strong transcription	Thymus	Thymus
43	chr12:120940600-120957400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr12:120940800-120944200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr12:120941000-120944000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr12:120941000-120944400	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr12:120941000-120944400	Strong transcription	Dnd41	blood
48	chr12:120941000-120944600	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr12:120941000-120950600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr12:120941200-120944000	Strong transcription	Rectal Mucosa Donor 31	rectum

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