Variant report

Variant	rs4767912
Chromosome Location	chr12:120981202-120981203
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:120981150-120981206	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:120971365..120974579-chr12:120980167..120982677,3	K562	blood:

Variant related genes	Relation type
RNF10	TF binding region
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];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1050187	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10744752	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10774549	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10774551	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10774553	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10774555	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10774560	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10774561	0.85[EUR][1000 genomes]
rs10849753	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10849754	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10849757	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849758	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849759	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10849766	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10849767	0.84[EUR][1000 genomes]
rs11065132	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11065145	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11065149	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065150	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11065151	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11065154	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12309824	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12312613	0.84[EUR][1000 genomes]
rs12370495	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12371550	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12813930	0.93[ASN][1000 genomes]
rs12814055	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1563333	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2138251	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2168319	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2233676	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2235217	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2235218	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2393590	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3213565	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3742052	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759394	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759396	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3893104	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3916065	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4766966	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4766968	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4766969	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4767897	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4767902	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4767903	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4767904	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767905	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4767906	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4767910	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4767911	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767914	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4767916	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs509445	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs516479	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs523522	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs524735	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs546417	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55848094	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56029862	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs579919	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs585510	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs603574	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61945857	0.87[AMR][1000 genomes]
rs643372	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs651627	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs655530	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs670568	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs687873	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7136951	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71454645	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7308053	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7471	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7488320	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9040	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9788155	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9795621	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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
rs4767912	COQ5	cis	Nerve Tibial	GTEx
rs4767912	COQ5	cis	Heart Left Ventricle	GTEx
rs4767912	COQ5	cis	Artery Aorta	GTEx
rs4767912	COQ5	cis	Esophagus Muscularis	GTEx
rs4767912	COQ5	Cis_1M	lymphoblastoid	RTeQTL
rs4767912	COQ5	cis	Artery Tibial	GTEx
rs4767912	COQ5	cis	Muscle Skeletal	GTEx
rs4767912	COQ5	cis	Skin Sun Exposed Lower leg	GTEx
rs4767912	COQ5	cis	lung	GTEx
rs4767912	COQ5	cis	Adipose Subcutaneous	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120973400-120984200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:120973800-120984000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:120974400-120984200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:120974600-120984000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr12:120975200-120982400	Enhancers	Pancreas	Pancrea
6	chr12:120975200-120985200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:120976000-121018000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:120976200-120984200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr12:120976200-120984600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr12:120976400-120983200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:120976400-120984200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr12:120976400-120984200	Weak transcription	Aorta	Aorta
13	chr12:120976400-121018200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr12:120976600-120982000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr12:120976600-120982200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:120976600-120983400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:120976600-120983600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr12:120976600-120984200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr12:120976800-120982400	Genic enhancers	Primary T cells fromperipheralblood	blood
20	chr12:120976800-120984000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr12:120977000-120982400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr12:120977000-120984000	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr12:120977000-120984400	Weak transcription	Fetal Brain Male	brain
24	chr12:120977200-120982800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
25	chr12:120977200-120983800	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr12:120977400-120984000	Weak transcription	Esophagus	oesophagus
27	chr12:120977400-120984000	Weak transcription	HSMMtube	muscle
28	chr12:120977400-120984200	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr12:120977400-120985000	Weak transcription	Fetal Kidney	kidney
30	chr12:120977400-120987400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr12:120977400-120995600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:120977400-121017600	Strong transcription	Fetal Thymus	thymus
33	chr12:120977400-121018200	Strong transcription	Fetal Stomach	stomach
34	chr12:120977600-120981400	Weak transcription	Brain Angular Gyrus	brain
35	chr12:120977600-120982400	Weak transcription	HMEC	breast
36	chr12:120977600-120982600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:120977600-120983800	Weak transcription	Brain Substantia Nigra	brain
38	chr12:120977600-120984000	Weak transcription	NH-A	brain
39	chr12:120977600-120984200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr12:120977600-121016800	Strong transcription	Dnd41	blood
41	chr12:120977800-120981600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr12:120977800-120982200	Weak transcription	Colonic Mucosa	Colon
43	chr12:120977800-120984000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr12:120977800-120984000	Weak transcription	Lung	lung
45	chr12:120977800-120988400	Strong transcription	Primary B cells from peripheral blood	blood
46	chr12:120978000-120981600	Weak transcription	Placenta	Placenta
47	chr12:120978000-120982800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
48	chr12:120978200-120982800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr12:120978400-120982000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr12:120978600-120981400	Weak transcription	Thymus	Thymus

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