Variant report

Variant	rs4767897
Chromosome Location	chr12:120893057-120893058
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:120892635-120893535	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr12:120893011-120893502	GM12891	blood:	n/a	n/a
3	POLR2A	chr12:120892616-120894559	HepG2	liver:	n/a	n/a
4	PAX5	chr12:120892970-120893250	GM12878	blood:	n/a	n/a
5	POLR2A	chr12:120892627-120893391	GM12878	blood:	n/a	n/a
6	POLR2A	chr12:120892930-120893457	GM12892	blood:	n/a	n/a
7	POLR2A	chr12:120892594-120893479	PFSK-1	brain:	n/a	n/a
8	POLR2A	chr12:120892952-120893233	GM12878	blood:	n/a	n/a
9	POLR2A	chr12:120892868-120893362	K562	blood:	n/a	n/a
10	POLR2A	chr12:120893010-120893303	GM12878	blood:	n/a	n/a
11	POLR2A	chr12:120892974-120893502	Hela-S3	cervix:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:120806478..120809212-chr12:120890745..120893495,2	MCF-7	breast:
2	chr12:120890623..120893474-chr12:120971364..120973181,2	K562	blood:
3	chr12:120883001..120885733-chr12:120888427..120893155,6	K562	blood:
4	chr12:120784433..120787362-chr12:120891914..120893925,2	MCF-7	breast:
5	chr12:120877284..120879575-chr12:120889829..120893367,4	K562	blood:
6	chr12:120881786..120887915-chr12:120889674..120896423,17	MCF-7	breast:
7	chr12:120890596..120893459-chr12:120932974..120935668,2	MCF-7	breast:
8	chr12:120888535..120893350-chr12:120899980..120905393,5	MCF-7	breast:

No data

Variant related genes	Relation type
RPL31P52	TF binding region
ENSG00000170855	Chromatin interaction
ENSG00000111786	Chromatin interaction
ENSG00000248008	Chromatin interaction
ENSG00000088986	Chromatin interaction
ENSG00000022840	Chromatin interaction
ENSG00000239881	Chromatin interaction
ENSG00000110871	Chromatin interaction
ENSG00000111775	Chromatin interaction
ENSG00000135097	Chromatin interaction
ENSG00000257218	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	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1050187	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10744752	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10774549	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10774551	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10774553	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10774555	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10774560	0.81[ASN][1000 genomes]
rs10849753	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10849754	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10849757	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10849758	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10849759	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10849766	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11065132	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11065145	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11065149	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11065150	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11065151	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11065154	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12309824	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12370495	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12371550	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12813930	0.89[ASN][1000 genomes]
rs12814055	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1563333	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2138251	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2168319	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2233676	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2235217	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2235218	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2393590	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3213565	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3742052	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3759394	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3759396	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3893104	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3916065	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4766966	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4766968	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4766969	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4767902	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4767903	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4767904	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4767905	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4767906	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4767910	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4767911	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4767912	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4767914	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4767916	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs509445	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs516479	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs523522	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs524735	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs546417	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55848094	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56029862	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs579919	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs585510	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs603574	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61945857	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs643372	0.83[ASN][1000 genomes]
rs651627	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs655530	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs670568	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs687873	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7136951	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71454645	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7308053	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7471	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7488320	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9040	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9788155	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9795621	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs4767897	COQ5	cis	Heart Left Ventricle	GTEx
rs4767897	COQ5	Cis_1M	lymphoblastoid	RTeQTL
rs4767897	COQ5	cis	Muscle Skeletal	GTEx
rs4767897	COQ5	cis	lung	GTEx
rs4767897	COQ5	cis	Nerve Tibial	GTEx
rs4767897	COQ5	cis	Esophagus Muscularis	GTEx
rs4767897	COQ5	cis	Artery Aorta	GTEx
rs4767897	COQ5	cis	Artery Tibial	GTEx
rs4767897	COQ5	cis	Adipose Subcutaneous	GTEx
rs4767897	COQ5	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120884800-120893200	Weak transcription	Small Intestine	intestine
2	chr12:120885000-120893800	Weak transcription	Ovary	ovary
3	chr12:120885400-120893200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr12:120885400-120893200	Weak transcription	Colonic Mucosa	Colon
5	chr12:120885400-120893800	Weak transcription	Esophagus	oesophagus
6	chr12:120885400-120893800	Weak transcription	Lung	lung
7	chr12:120885400-120894000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:120885400-120895600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:120885400-120904400	Strong transcription	Fetal Muscle Trunk	muscle
10	chr12:120885400-120906000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr12:120885400-120906000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr12:120885600-120893800	Weak transcription	HSMMtube	muscle
13	chr12:120885600-120894000	Weak transcription	Brain Anterior Caudate	brain
14	chr12:120885600-120894400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr12:120885600-120896400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr12:120885600-120904000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:120885600-120904000	Strong transcription	Fetal Stomach	stomach
18	chr12:120885800-120893200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr12:120885800-120893800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:120885800-120894000	Weak transcription	Brain Angular Gyrus	brain
21	chr12:120885800-120894000	Weak transcription	Psoas Muscle	Psoas
22	chr12:120885800-120894000	Weak transcription	HUVEC	blood vessel
23	chr12:120885800-120894200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr12:120885800-120894200	Weak transcription	Brain Substantia Nigra	brain
25	chr12:120885800-120897800	Weak transcription	Fetal Heart	heart
26	chr12:120885800-120904200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:120885800-120904400	Strong transcription	Fetal Muscle Leg	muscle
28	chr12:120885800-120904400	Weak transcription	Right Atrium	heart
29	chr12:120885800-120904600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:120885800-120904600	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr12:120886000-120894800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr12:120886000-120897000	Weak transcription	Fetal Brain Male	brain
33	chr12:120886000-120904200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:120886200-120904800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr12:120886400-120894000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr12:120886400-120897800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr12:120886600-120904200	Strong transcription	Fetal Thymus	thymus
38	chr12:120887000-120903400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:120887000-120904000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr12:120887000-120904000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr12:120887000-120904000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr12:120887000-120905000	Strong transcription	Thymus	Thymus
43	chr12:120887000-120905600	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr12:120887200-120903200	Strong transcription	Dnd41	blood
45	chr12:120887200-120903400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr12:120887200-120904600	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr12:120887400-120894000	Weak transcription	Gastric	stomach
48	chr12:120887400-120894400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr12:120887600-120894200	Weak transcription	Pancreas	Pancrea
50	chr12:120888000-120904000	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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