Variant report

Variant	rs10774551
Chromosome Location	chr12:120927826-120927827
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120908111..120912110-chr12:120923123..120927882,5	K562	blood:
2	chr12:120914291..120915832-chr12:120925893..120928609,2	K562	blood:
3	chr12:120899786..120915162-chr12:120926090..120939394,54	MCF-7	breast:
4	chr12:120905412..120907184-chr12:120925601..120927838,2	K562	blood:
5	chr12:120916702..120919183-chr12:120925970..120929169,3	MCF-7	breast:
6	chr12:120926047..120931011-chr12:120931447..120937108,13	K562	blood:
7	chr12:120919546..120923811-chr12:120926379..120930446,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COQ5-1	chr12:120927721-120929913	NONHSAT031176

No data

Variant related genes	Relation type
ENSG00000088986	Chromatin interaction
ENSG00000111786	Chromatin interaction
ENSG00000248008	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	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1050187	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10744752	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10774549	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10774553	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10774555	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10774560	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10849753	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10849754	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10849757	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849758	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849759	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10849766	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11065132	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11065145	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11065149	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065150	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11065151	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11065154	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12309824	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12370495	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12371550	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12813930	0.93[ASN][1000 genomes]
rs12814055	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1563333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2138251	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2168319	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2233676	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2235217	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2235218	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2393590	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3213565	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3742052	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759394	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759396	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3893104	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3916065	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4766966	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4766968	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4766969	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4767897	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4767902	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4767903	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4767904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767905	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4767906	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4767910	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4767911	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767912	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767914	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4767916	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs509445	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs516479	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs523522	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs524735	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs546417	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55848094	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56029862	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs579919	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs585510	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs603574	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61945857	0.86[AMR][1000 genomes]
rs643372	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs651627	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs655530	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs670568	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs687873	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7136951	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71454645	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7308053	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7471	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7488320	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9040	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9788155	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9795621	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs10774551	COQ5	cis	Heart Left Ventricle	GTEx
rs10774551	COQ5	cis	Muscle Skeletal	GTEx
rs10774551	COQ5	cis	Esophagus Muscularis	GTEx
rs10774551	COQ5	cis	Artery Aorta	GTEx
rs10774551	COQ5	cis	lung	GTEx
rs10774551	COQ5	Cis_1M	lymphoblastoid	RTeQTL
rs10774551	COQ5	cis	Artery Tibial	GTEx
rs10774551	COQ5	cis	Skin Sun Exposed Lower leg	GTEx
rs10774551	COQ5	cis	Adipose Subcutaneous	GTEx
rs10774551	COQ5	cis	Nerve Tibial	GTEx

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120908200-120933200	Weak transcription	Aorta	Aorta
2	chr12:120908400-120928800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr12:120908400-120929000	Weak transcription	Psoas Muscle	Psoas
4	chr12:120908400-120932400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:120908400-120932400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr12:120908600-120928200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:120908600-120928600	Weak transcription	Spleen	Spleen
8	chr12:120908600-120928800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr12:120908600-120932800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr12:120908600-120932800	Weak transcription	Adipose Nuclei	Adipose
11	chr12:120908600-120932800	Weak transcription	Brain Germinal Matrix	brain
12	chr12:120908600-120932800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr12:120908600-120933000	Weak transcription	Thymus	Thymus
14	chr12:120908800-120928400	Weak transcription	Primary T cells from cord blood	blood
15	chr12:120911000-120932800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:120912000-120928600	Weak transcription	Esophagus	oesophagus
17	chr12:120912600-120929200	Weak transcription	Fetal Thymus	thymus
18	chr12:120912800-120928800	Weak transcription	Placenta	Placenta
19	chr12:120912800-120932600	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr12:120913000-120928600	Weak transcription	NHDF-Ad	bronchial
21	chr12:120913000-120932600	Weak transcription	NH-A	brain
22	chr12:120913200-120928400	Weak transcription	NHEK	skin
23	chr12:120913200-120932800	Weak transcription	HSMM	muscle
24	chr12:120913800-120932400	Weak transcription	HMEC	breast
25	chr12:120914400-120932600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr12:120916400-120932800	Weak transcription	Liver	Liver
27	chr12:120917800-120928200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr12:120918200-120933000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr12:120918400-120928200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:120918400-120928200	Weak transcription	Duodenum Mucosa	Duodenum
31	chr12:120918400-120932800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:120918600-120928400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:120918600-120928800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr12:120919000-120933000	Weak transcription	Primary B cells from cord blood	blood
35	chr12:120919400-120928200	Weak transcription	A549	lung
36	chr12:120919400-120928800	Weak transcription	Lung	lung
37	chr12:120920200-120928200	Weak transcription	Fetal Intestine Large	intestine
38	chr12:120920200-120933000	Weak transcription	Right Ventricle	heart
39	chr12:120920600-120928400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr12:120920800-120928000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr12:120920800-120928200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr12:120920800-120932800	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr12:120921000-120932600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr12:120921800-120928200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr12:120922200-120928600	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr12:120922600-120932400	Weak transcription	Hela-S3	cervix
47	chr12:120923000-120928600	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr12:120923000-120929000	Weak transcription	NHLF	lung
49	chr12:120923800-120932800	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr12:120923800-120933000	Weak transcription	Colonic Mucosa	Colon

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