Variant report

Variant	rs12814055
Chromosome Location	chr12:120987391-120987392
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:120987388-120987439	HepG2	liver:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120985691..120987813-chr12:121000937..121002472,2	K562	blood:
2	chr12:120986321..120988616-chr12:120990306..120992869,4	MCF-7	breast:
3	chr12:120728975..120731075-chr12:120985391..120988304,2	K562	blood:
4	chr12:120981016..120984297-chr12:120984439..120988147,3	K562	blood:
5	chr12:120985501..120987778-chr12:121016107..121018292,2	K562	blood:
6	chr12:120984282..120987778-chr12:121013554..121017607,3	K562	blood:
7	chr12:120986628..120988367-chr12:120995185..120997515,2	K562	blood:
8	chr12:120971071..120973641-chr12:120986668..120988897,2	MCF-7	breast:

No data

Variant related genes	Relation type
RNF10	TF binding region
ENSG00000167272	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000110871	Chromatin interaction
ENSG00000022840	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 10 )

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

rs_ID	r²[population]
rs1048830	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1050187	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10744752	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10774549	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10774551	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10774553	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10774555	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10774560	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10774561	0.84[EUR][1000 genomes]
rs10849753	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10849754	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10849757	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10849758	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10849759	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849766	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10849767	0.83[EUR][1000 genomes]
rs11065132	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11065145	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11065149	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11065150	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11065151	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11065154	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12309824	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12312613	0.83[EUR][1000 genomes]
rs12370495	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12371550	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12813930	0.91[ASN][1000 genomes]
rs1563333	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2138251	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2168319	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2233676	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2235217	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2235218	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2393590	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3213565	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3742052	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3759394	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3759396	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3893104	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3916065	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4766966	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4766968	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4766969	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4767897	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4767902	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4767903	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4767904	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4767905	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4767906	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4767910	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767911	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4767912	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4767914	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767916	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs509445	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs516479	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs523522	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs524735	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs546417	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55848094	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56029862	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs579919	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs585510	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs603574	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61945857	0.87[AMR][1000 genomes]
rs643372	0.85[AFR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs651627	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs655530	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs670568	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs687873	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7136951	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71454645	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7308053	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7471	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7488320	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9040	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9788155	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9795621	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv906	chr12:120973683-121018441	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs12814055	COQ5	cis	lung	GTEx
rs12814055	COQ5	cis	Adipose Subcutaneous	GTEx
rs12814055	COQ5	cis	Muscle Skeletal	GTEx
rs12814055	COQ5	Cis_1M	lymphoblastoid	RTeQTL
rs12814055	COQ5	cis	Skin Sun Exposed Lower leg	GTEx
rs12814055	COQ5	cis	Nerve Tibial	GTEx
rs12814055	COQ5	cis	Artery Aorta	GTEx
rs12814055	COQ5	cis	Heart Left Ventricle	GTEx
rs12814055	COQ5	cis	Esophagus Muscularis	GTEx
rs12814055	COQ5	cis	Artery Tibial	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120976000-121018000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:120976400-121018200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:120977400-120987400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:120977400-120995600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:120977400-121017600	Strong transcription	Fetal Thymus	thymus
6	chr12:120977400-121018200	Strong transcription	Fetal Stomach	stomach
7	chr12:120977600-121016800	Strong transcription	Dnd41	blood
8	chr12:120977800-120988400	Strong transcription	Primary B cells from peripheral blood	blood
9	chr12:120981200-120988400	Strong transcription	NHEK	skin
10	chr12:120981800-120987600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:120982000-120987600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr12:120982200-120987600	Genic enhancers	HepG2	liver
13	chr12:120982200-120988400	Strong transcription	HSMM	muscle
14	chr12:120982200-121017600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:120982400-120987400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr12:120983400-120990200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:120983400-120990200	Strong transcription	Fetal Muscle Leg	muscle
18	chr12:120983600-120987400	Strong transcription	Primary hematopoietic stem cells	blood
19	chr12:120983600-120988000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:120983600-120988400	Strong transcription	Primary T cells from cord blood	blood
21	chr12:120983600-120988800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr12:120983600-120989000	Strong transcription	GM12878-XiMat	blood
23	chr12:120983600-121017600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:120983600-121017600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr12:120983600-121017800	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr12:120983600-121017800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr12:120983600-121017800	Strong transcription	Fetal Muscle Trunk	muscle
28	chr12:120983800-120987600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr12:120983800-120988200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr12:120983800-120988600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr12:120983800-121017800	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr12:120983800-121017800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:120984000-120987400	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr12:120984000-120987400	Strong transcription	Adipose Nuclei	Adipose
35	chr12:120984000-120987400	Strong transcription	Esophagus	oesophagus
36	chr12:120984000-120987400	Strong transcription	Lung	lung
37	chr12:120984000-120987400	Genic enhancers	Psoas Muscle	Psoas
38	chr12:120984000-120987400	Strong transcription	NHLF	lung
39	chr12:120984000-120987600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:120984000-120987800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:120984000-120988000	Strong transcription	Primary B cells from cord blood	blood
42	chr12:120984000-120988000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr12:120984000-120988000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr12:120984000-120988200	Strong transcription	H9 Cell Line	embryonic stem cell
45	chr12:120984000-120988200	Strong transcription	HSMMtube	muscle
46	chr12:120984000-120988600	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr12:120984000-120988600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr12:120984000-120989200	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr12:120984000-120995000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr12:120984000-120996000	Strong transcription	Cortex derived primary cultured neurospheres	brain

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