Variant report

Variant	rs56029862
Chromosome Location	chr12:120955857-120955858
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:120728524..120732332-chr12:120955172..120958730,4	K562	blood:

Variant related genes	Relation type
ENSG00000202538	Chromatin interaction
ENSG00000200795	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	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1050187	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10744752	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10774549	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10774551	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10774553	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10774555	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10774560	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10774561	0.83[EUR][1000 genomes]
rs10849753	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10849754	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10849757	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10849758	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10849759	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10849766	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10849767	0.82[EUR][1000 genomes]
rs11065132	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11065145	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11065149	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11065150	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11065151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11065154	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12309824	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12312613	0.82[EUR][1000 genomes]
rs12370495	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12371550	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12813930	0.95[ASN][1000 genomes]
rs12814055	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1563333	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2138251	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2168319	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2233676	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2235217	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2235218	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2393590	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3213565	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3742052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3759394	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3759396	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3893104	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3916065	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4766966	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4766968	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4766969	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4767897	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4767902	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4767903	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4767904	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4767905	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4767906	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4767910	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4767911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4767912	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4767914	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4767916	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs509445	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs516479	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs523522	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs524735	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs546417	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55848094	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs579919	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs585510	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs603574	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61945857	0.91[AMR][1000 genomes]
rs643372	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs651627	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs655530	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs670568	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs687873	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7136951	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71454645	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7308053	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7471	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7488320	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9040	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9788155	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9795621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs56029862	COQ5	cis	Esophagus Muscularis	GTEx
rs56029862	COQ5	cis	Artery Tibial	GTEx
rs56029862	COQ5	Cis_1M	lymphoblastoid	RTeQTL
rs56029862	COQ5	cis	lung	GTEx
rs56029862	COQ5	cis	Artery Aorta	GTEx
rs56029862	COQ5	cis	Muscle Skeletal	GTEx
rs56029862	COQ5	cis	Adipose Subcutaneous	GTEx
rs56029862	COQ5	cis	Skin Sun Exposed Lower leg	GTEx
rs56029862	COQ5	cis	Nerve Tibial	GTEx
rs56029862	COQ5	cis	Heart Left Ventricle	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120935200-120966200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:120935600-120966200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr12:120936000-120964200	Strong transcription	Fetal Muscle Trunk	muscle
4	chr12:120936400-120963800	Weak transcription	Hela-S3	cervix
5	chr12:120936400-120966000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr12:120936400-120966200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr12:120936800-120956600	Weak transcription	Stomach Mucosa	stomach
8	chr12:120937200-120966000	Weak transcription	Psoas Muscle	Psoas
9	chr12:120937600-120963600	Strong transcription	Fetal Intestine Small	intestine
10	chr12:120940600-120957400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:120941800-120964000	Weak transcription	HUVEC	blood vessel
12	chr12:120942000-120962600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr12:120942400-120959800	Weak transcription	Fetal Kidney	kidney
14	chr12:120942800-120966200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:120943000-120958400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:120943000-120963800	Weak transcription	K562	blood
17	chr12:120943000-120966200	Weak transcription	Fetal Heart	heart
18	chr12:120945600-120956200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:120945600-120962000	Strong transcription	Fetal Muscle Leg	muscle
20	chr12:120945800-120956200	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr12:120945800-120963600	Strong transcription	Fetal Stomach	stomach
22	chr12:120947200-120966000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr12:120948600-120966000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr12:120950600-120958800	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr12:120951600-120965600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:120951800-120961600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr12:120951800-120962000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr12:120952000-120956400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:120952400-120961200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr12:120953600-120966200	Weak transcription	Brain Angular Gyrus	brain
31	chr12:120953800-120958600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:120953800-120959800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr12:120954000-120963200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr12:120954000-120965800	Weak transcription	Small Intestine	intestine
35	chr12:120954200-120958800	Weak transcription	Fetal Lung	lung
36	chr12:120954200-120959200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr12:120954200-120959800	Weak transcription	Brain Substantia Nigra	brain
38	chr12:120954200-120960000	Weak transcription	HepG2	liver
39	chr12:120954200-120964000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr12:120954200-120966000	Weak transcription	Rectal Smooth Muscle	rectum
41	chr12:120954200-120966200	Weak transcription	Brain Cingulate Gyrus	brain
42	chr12:120954200-120966600	Weak transcription	Spleen	Spleen
43	chr12:120954400-120959800	Weak transcription	Brain Hippocampus Middle	brain
44	chr12:120954400-120963800	Weak transcription	NHDF-Ad	bronchial
45	chr12:120954400-120963800	Weak transcription	Osteobl	bone
46	chr12:120954400-120964000	Weak transcription	NHLF	lung
47	chr12:120954400-120966000	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr12:120954400-120966000	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr12:120954400-120966200	Weak transcription	Gastric	stomach
50	chr12:120954600-120957000	Weak transcription	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links