Variant report

Variant	rs10774549
Chromosome Location	chr12:120891172-120891173
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:120891172-120891434	K562	blood:	n/a	n/a
2	POLR2A	chr12:120890892-120891179	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr12:120890712-120892187	U87	brain:	n/a	n/a
4	POLR2A	chr12:120890805-120891288	HUVEC	blood vessel:	n/a	n/a
5	CTCF	chr12:120891080-120891230	NHLF	lung:	n/a	n/a
6	POLR2A	chr12:120891061-120891697	HepG2	liver:	n/a	n/a
7	POLR2A	chr12:120891128-120891490	HepG2	liver:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120806478..120809212-chr12:120890745..120893495,2	MCF-7	breast:
2	chr12:120889513..120892526-chr12:120894358..120898102,4	MCF-7	breast:
3	chr12:120890623..120893474-chr12:120971364..120973181,2	K562	blood:
4	chr12:120883001..120885733-chr12:120888427..120893155,6	K562	blood:
5	chr12:120794136..120796708-chr12:120889639..120892127,2	MCF-7	breast:
6	chr12:120890213..120891831-chr12:120971934..120973652,2	MCF-7	breast:
7	chr12:120877284..120879575-chr12:120889829..120893367,4	K562	blood:
8	chr12:120881786..120887915-chr12:120889674..120896423,17	MCF-7	breast:
9	chr12:120890596..120893459-chr12:120932974..120935668,2	MCF-7	breast:
10	chr12:120888535..120893350-chr12:120899980..120905393,5	MCF-7	breast:
11	chr12:120887387..120890058-chr12:120890308..120891813,2	MCF-7	breast:

No data

Variant related genes	Relation type
RPL31P52	TF binding region
ENSG00000248008	Chromatin interaction
ENSG00000088986	Chromatin interaction
ENSG00000170855	Chromatin interaction
ENSG00000111786	Chromatin interaction
ENSG00000110871	Chromatin interaction
ENSG00000239881	Chromatin interaction
ENSG00000111775	Chromatin interaction
ENSG00000022840	Chromatin interaction
ENSG00000135097	Chromatin interaction
ENSG00000219355	Chromatin interaction
ENSG00000257218	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	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1050187	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10744752	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10774551	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10774553	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10774555	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10774560	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10849749	0.83[ASN][1000 genomes]
rs10849753	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10849754	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10849757	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10849758	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10849759	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10849766	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11065132	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11065145	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11065149	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11065150	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11065151	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11065154	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12309824	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12370495	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12371550	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12813930	0.85[ASN][1000 genomes]
rs12814055	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1563333	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2138251	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2168319	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2233676	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2235217	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2235218	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2393590	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3213565	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3742052	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3759394	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3759396	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3893104	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3916065	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4766966	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4766968	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4766969	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4767897	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4767902	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4767903	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4767904	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4767905	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4767906	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4767910	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4767911	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4767912	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4767914	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4767916	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs509445	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs516479	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs523522	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs524735	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs546417	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55848094	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56029862	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs579919	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs585510	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs603574	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61945857	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs643372	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs651627	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs655530	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs670568	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs687873	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7132474	0.83[ASN][1000 genomes]
rs7136951	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71454645	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7308053	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73221357	0.82[ASN][1000 genomes]
rs7471	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7488320	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9040	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9788155	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9795621	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs10774549	COQ5	cis	Adipose Subcutaneous	GTEx
rs10774549	COQ5	cis	lung	GTEx
rs10774549	COQ5	Cis_1M	lymphoblastoid	RTeQTL
rs10774549	COQ5	cis	Esophagus Muscularis	GTEx
rs10774549	COQ5	cis	Artery Aorta	GTEx
rs10774549	COQ5	cis	Heart Left Ventricle	GTEx
rs10774549	COQ5	cis	Nerve Tibial	GTEx
rs10774549	COQ5	cis	Artery Tibial	GTEx
rs10774549	COQ5	cis	Skin Sun Exposed Lower leg	GTEx
rs10774549	COQ5	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120884800-120893000	Weak transcription	Aorta	Aorta
2	chr12:120884800-120893200	Weak transcription	Small Intestine	intestine
3	chr12:120885000-120893800	Weak transcription	Ovary	ovary
4	chr12:120885400-120892200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:120885400-120892200	Weak transcription	Left Ventricle	heart
6	chr12:120885400-120892600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:120885400-120893200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:120885400-120893200	Weak transcription	Colonic Mucosa	Colon
9	chr12:120885400-120893800	Weak transcription	Esophagus	oesophagus
10	chr12:120885400-120893800	Weak transcription	Lung	lung
11	chr12:120885400-120894000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:120885400-120895600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:120885400-120904400	Strong transcription	Fetal Muscle Trunk	muscle
14	chr12:120885400-120906000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr12:120885400-120906000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:120885600-120892600	Weak transcription	Adipose Nuclei	Adipose
17	chr12:120885600-120893800	Weak transcription	HSMMtube	muscle
18	chr12:120885600-120894000	Weak transcription	Brain Anterior Caudate	brain
19	chr12:120885600-120894400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr12:120885600-120896400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr12:120885600-120904000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:120885600-120904000	Strong transcription	Fetal Stomach	stomach
23	chr12:120885800-120891200	Weak transcription	NHDF-Ad	bronchial
24	chr12:120885800-120893200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr12:120885800-120893800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:120885800-120894000	Weak transcription	Brain Angular Gyrus	brain
27	chr12:120885800-120894000	Weak transcription	Psoas Muscle	Psoas
28	chr12:120885800-120894000	Weak transcription	HUVEC	blood vessel
29	chr12:120885800-120894200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr12:120885800-120894200	Weak transcription	Brain Substantia Nigra	brain
31	chr12:120885800-120897800	Weak transcription	Fetal Heart	heart
32	chr12:120885800-120904200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr12:120885800-120904400	Strong transcription	Fetal Muscle Leg	muscle
34	chr12:120885800-120904400	Weak transcription	Right Atrium	heart
35	chr12:120885800-120904600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr12:120885800-120904600	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr12:120886000-120892400	Weak transcription	Right Ventricle	heart
38	chr12:120886000-120892600	Weak transcription	Brain Hippocampus Middle	brain
39	chr12:120886000-120894800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr12:120886000-120897000	Weak transcription	Fetal Brain Male	brain
41	chr12:120886000-120904200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr12:120886200-120891600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:120886200-120904800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr12:120886400-120894000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr12:120886400-120897800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr12:120886600-120904200	Strong transcription	Fetal Thymus	thymus
47	chr12:120886800-120891800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr12:120887000-120903400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:120887000-120904000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr12:120887000-120904000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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