Variant report

Variant	rs7136951
Chromosome Location	chr12:120941927-120941928
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:120932725..120938580-chr12:120938743..120942478,11	MCF-7	breast:
2	chr12:120903724..120908002-chr12:120939821..120944385,4	MCF-7	breast:
3	chr12:120933177..120935963-chr12:120940341..120945552,6	K562	blood:
4	chr12:120941530..120943140-chr12:120965565..120967204,2	K562	blood:

Variant related genes	Relation type
ENSG00000110871	Chromatin interaction
ENSG00000111786	Chromatin interaction
ENSG00000248008	Chromatin interaction
ENSG00000088986	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	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1050187	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10744752	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10774549	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10774551	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10774553	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10774555	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10774560	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10774561	0.81[EUR][1000 genomes]
rs10849753	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10849754	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849757	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10849758	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10849759	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10849766	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10849767	0.80[EUR][1000 genomes]
rs11065132	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11065145	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11065149	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11065150	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11065151	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11065154	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12309824	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12312613	0.81[EUR][1000 genomes]
rs12370495	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12371550	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12813930	0.93[ASN][1000 genomes]
rs12814055	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1563333	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2138251	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2168319	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2233676	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2235217	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2235218	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2393590	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3213565	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3742052	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3759394	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3759396	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3893104	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3916065	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4766966	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4766968	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4766969	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4767897	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4767902	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4767903	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4767904	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4767905	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4767906	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4767910	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4767911	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4767912	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4767914	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4767916	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs509445	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs516479	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs523522	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs524735	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs546417	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55848094	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56029862	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs579919	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs585510	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs603574	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61945857	0.86[AMR][1000 genomes]
rs643372	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs651627	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs655530	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs670568	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs687873	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71454645	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7308053	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7471	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7488320	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9040	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9788155	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9795621	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs7136951	COQ5	cis	Skin Sun Exposed Lower leg	GTEx
rs7136951	COQ5	cis	Heart Left Ventricle	GTEx
rs7136951	COQ5	cis	Esophagus Muscularis	GTEx
rs7136951	COQ5	cis	Artery Aorta	GTEx
rs7136951	COQ5	Cis_1M	lymphoblastoid	RTeQTL
rs7136951	COQ5	cis	Adipose Subcutaneous	GTEx
rs7136951	COQ5	cis	lung	GTEx
rs7136951	COQ5	cis	Artery Tibial	GTEx
rs7136951	COQ5	cis	Nerve Tibial	GTEx
rs7136951	COQ5	cis	Muscle Skeletal	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	chr12:120935400-120945800	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	chr12:120936000-120943200	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr12:120936000-120943400	Strong transcription	Placenta	Placenta
10	chr12:120936000-120944200	Strong transcription	Left Ventricle	heart
11	chr12:120936000-120944800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:120936000-120947000	Weak transcription	Colonic Mucosa	Colon
13	chr12:120936000-120947200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr12:120936000-120955200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:120936000-120964200	Strong transcription	Fetal Muscle Trunk	muscle
16	chr12:120936400-120942000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr12:120936400-120963800	Weak transcription	Hela-S3	cervix
18	chr12:120936400-120966000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr12:120936400-120966200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr12:120936600-120949600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr12:120936600-120954800	Strong transcription	Adipose Nuclei	Adipose
22	chr12:120936800-120944600	Strong transcription	Fetal Muscle Leg	muscle
23	chr12:120936800-120956600	Weak transcription	Stomach Mucosa	stomach
24	chr12:120937000-120944400	Strong transcription	Fetal Stomach	stomach
25	chr12:120937000-120951800	Weak transcription	NH-A	brain
26	chr12:120937200-120943000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr12:120937200-120945800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr12:120937200-120966000	Weak transcription	Psoas Muscle	Psoas
29	chr12:120937600-120943000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr12:120937600-120963600	Strong transcription	Fetal Intestine Small	intestine
31	chr12:120938000-120944800	Strong transcription	Liver	Liver
32	chr12:120938000-120953200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr12:120938200-120943600	Strong transcription	Fetal Intestine Large	intestine
34	chr12:120938400-120944800	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr12:120938800-120943000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr12:120938800-120944000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr12:120938800-120944000	Strong transcription	Lung	lung
38	chr12:120938800-120944800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr12:120939000-120943000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr12:120939000-120943000	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr12:120939000-120946800	Weak transcription	NHDF-Ad	bronchial
42	chr12:120939200-120942600	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr12:120939200-120943800	Strong transcription	Fetal Thymus	thymus
44	chr12:120939200-120944000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr12:120939200-120944600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr12:120939400-120946000	Weak transcription	Small Intestine	intestine
47	chr12:120939800-120951800	Weak transcription	Fetal Brain Male	brain
48	chr12:120940000-120942600	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr12:120940200-120942200	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr12:120940400-120942000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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