Variant report

Variant	rs2393590
Chromosome Location	chr12:120913900-120913901
allele	A/G
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120903414..120909393-chr12:120910653..120915482,19	MCF-7	breast:
2	chr12:120727751..120732241-chr12:120903536..120914205,12	MCF-7	breast:
3	chr12:120903651..120915747-chr12:120930491..120936868,24	K562	blood:
4	chr12:120877160..120879144-chr12:120912713..120914727,2	MCF-7	breast:
5	chr12:120911083..120913950-chr12:120960998..120963373,2	K562	blood:
6	chr12:120899786..120915162-chr12:120926090..120939394,54	MCF-7	breast:
7	chr12:120912239..120914357-chr12:120965439..120967100,2	K562	blood:
8	chr12:120911190..120915382-chr12:120965465..120968340,3	MCF-7	breast:
9	chr12:120910734..120913987-chr12:120933079..120935604,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000110871	Chromatin interaction
ENSG00000111786	Chromatin interaction
ENSG00000088986	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000111775	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000241030	Chromatin interaction
ENSG00000248008	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 11 )

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

rs_ID	r²[population]
rs1048830	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1050187	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10744752	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10774549	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10774551	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10774553	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10774555	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10774560	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10849749	0.81[ASN][1000 genomes]
rs10849753	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849754	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10849757	0.91[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10849758	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10849759	0.87[CEU][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10849766	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11065132	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065145	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11065149	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11065150	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11065151	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11065154	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12309824	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12370495	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12371550	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12813930	0.88[ASN][1000 genomes]
rs12814055	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1563333	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2138251	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2168319	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2233676	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2235217	0.90[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2235218	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3213565	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3742052	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3759394	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3759396	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3893104	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3916065	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4766966	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4766968	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]
rs4766969	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4767897	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4767902	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767903	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4767904	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4767905	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4767906	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4767910	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4767911	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4767912	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4767914	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4767916	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs509445	0.90[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs516479	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs523522	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs524735	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs546417	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55848094	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56029862	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs579919	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs585510	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs603574	0.91[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61945857	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs643372	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs651627	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs655530	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs670568	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs687873	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7132474	0.81[ASN][1000 genomes]
rs7136951	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71454645	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7308053	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73221357	0.82[ASN][1000 genomes]
rs7471	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7488320	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9040	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9788155	0.91[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9795621	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs2393590	COQ5	cis	Muscle Skeletal	GTEx
rs2393590	COQ5	cis	Artery Tibial	GTEx
rs2393590	COQ5	cis	Heart Left Ventricle	GTEx
rs2393590	COQ5	cis	Frontal Cortex	GTEx
rs2393590	COQ5	cis	Nerve Tibial	GTEx
rs2393590	COQ5	cis	lung	GTEx
rs2393590	COQ5	cis	Esophagus Muscularis	GTEx
rs2393590	COQ5	Cis_1M	lymphoblastoid	RTeQTL
rs2393590	COQ5	cis	Skin Sun Exposed Lower leg	GTEx
rs2393590	COQ5	cis	Artery Aorta	GTEx
rs2393590	COQ5	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120908200-120933200	Weak transcription	Aorta	Aorta
2	chr12:120908400-120917400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:120908400-120919400	Weak transcription	Right Ventricle	heart
4	chr12:120908400-120919800	Weak transcription	Fetal Intestine Large	intestine
5	chr12:120908400-120925800	Weak transcription	Fetal Intestine Small	intestine
6	chr12:120908400-120926000	Weak transcription	HSMMtube	muscle
7	chr12:120908400-120928800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr12:120908400-120929000	Weak transcription	Psoas Muscle	Psoas
9	chr12:120908400-120932400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr12:120908400-120932400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr12:120908600-120917400	Weak transcription	Fetal Muscle Leg	muscle
12	chr12:120908600-120925400	Weak transcription	Pancreas	Pancrea
13	chr12:120908600-120927200	Weak transcription	Fetal Brain Female	brain
14	chr12:120908600-120928200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:120908600-120928600	Weak transcription	Spleen	Spleen
16	chr12:120908600-120928800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr12:120908600-120932800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr12:120908600-120932800	Weak transcription	Adipose Nuclei	Adipose
19	chr12:120908600-120932800	Weak transcription	Brain Germinal Matrix	brain
20	chr12:120908600-120932800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr12:120908600-120933000	Weak transcription	Thymus	Thymus
22	chr12:120908800-120917400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr12:120908800-120926000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr12:120908800-120928400	Weak transcription	Primary T cells from cord blood	blood
25	chr12:120909200-120914200	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr12:120909200-120919400	Weak transcription	Fetal Stomach	stomach
27	chr12:120909200-120919600	Weak transcription	Fetal Muscle Trunk	muscle
28	chr12:120910600-120917400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr12:120911000-120917400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr12:120911000-120932800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:120911600-120914400	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr12:120912000-120928600	Weak transcription	Esophagus	oesophagus
33	chr12:120912200-120917400	Weak transcription	Brain Angular Gyrus	brain
34	chr12:120912600-120916800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:120912600-120917400	Weak transcription	Brain Substantia Nigra	brain
36	chr12:120912600-120929200	Weak transcription	Fetal Thymus	thymus
37	chr12:120912800-120917400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr12:120912800-120917400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr12:120912800-120917400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr12:120912800-120917400	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr12:120912800-120917400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr12:120912800-120917600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr12:120912800-120926000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr12:120912800-120928800	Weak transcription	Placenta	Placenta
45	chr12:120912800-120932600	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr12:120913000-120917400	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr12:120913000-120918000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr12:120913000-120919400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr12:120913000-120919400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr12:120913000-120927800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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