Variant report

Variant	rs10849758
Chromosome Location	chr12:120971149-120971150
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120970635..120973356-chr12:121018386..121020894,3	K562	blood:
2	chr12:120728453..120733011-chr12:120965347..120973411,16	MCF-7	breast:
3	chr12:120931985..120935585-chr12:120970035..120974742,8	MCF-7	breast:
4	chr12:120905043..120908623-chr12:120970585..120973644,4	K562	blood:
5	chr12:120932493..120935871-chr12:120970423..120972998,4	K562	blood:
6	chr12:120932857..120935871-chr12:120969535..120974885,9	K562	blood:
7	chr12:120933021..120935221-chr12:120970996..120973452,2	MCF-7	breast:
8	chr12:120964646..120969249-chr12:120969286..120973951,11	MCF-7	breast:
9	chr12:120905762..120908724-chr12:120970875..120974820,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000202538	Chromatin interaction
ENSG00000167272	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000111786	Chromatin interaction
ENSG00000088986	Chromatin interaction
ENSG00000110871	Chromatin interaction
ENSG00000248008	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];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1050187	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10744752	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10774549	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10774551	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10774553	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10774555	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10774560	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10774561	0.86[EUR][1000 genomes]
rs10849753	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10849754	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10849757	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849759	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10849766	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10849767	0.85[EUR][1000 genomes]
rs11065132	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11065145	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11065149	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065150	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11065151	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11065154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12309824	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12312613	0.85[EUR][1000 genomes]
rs12370495	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12371550	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12813930	0.93[ASN][1000 genomes]
rs12814055	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1563333	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2138251	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2168319	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2233676	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2235217	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2235218	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2393590	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3213565	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3742052	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759394	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759396	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3893104	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3916065	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4766966	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4766968	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4766969	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4767897	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4767902	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4767903	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4767904	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767905	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4767906	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4767910	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4767911	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767912	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767914	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4767916	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs509445	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs516479	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs523522	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs524735	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs546417	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55848094	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56029862	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs579919	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs585510	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs603574	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61945857	0.91[AMR][1000 genomes]
rs643372	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs651627	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs655530	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs670568	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs687873	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7136951	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71454645	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7308053	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7471	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7488320	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9040	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9788155	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9795621	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs10849758	COQ5	cis	Artery Aorta	GTEx
rs10849758	COQ5	cis	Esophagus Muscularis	GTEx
rs10849758	COQ5	cis	Adipose Subcutaneous	GTEx
rs10849758	COQ5	cis	Nerve Tibial	GTEx
rs10849758	COQ5	cis	Skin Sun Exposed Lower leg	GTEx
rs10849758	COQ5	cis	lung	GTEx
rs10849758	COQ5	cis	Artery Tibial	GTEx
rs10849758	COQ5	cis	Muscle Skeletal	GTEx
rs10849758	COQ5	cis	Heart Left Ventricle	GTEx
rs10849758	COQ5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120967200-120972200	Weak transcription	Spleen	Spleen
2	chr12:120967400-120972000	Weak transcription	Esophagus	oesophagus
3	chr12:120967400-120972200	Weak transcription	Lung	lung
4	chr12:120967400-120972200	Weak transcription	Small Intestine	intestine
5	chr12:120967600-120972200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:120967800-120971200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr12:120967800-120971600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr12:120967800-120971800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:120967800-120971800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:120967800-120971800	Weak transcription	Left Ventricle	heart
11	chr12:120967800-120971800	Weak transcription	HSMMtube	muscle
12	chr12:120967800-120972000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:120967800-120972000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:120968000-120971200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr12:120968000-120971200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr12:120968000-120971200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr12:120968000-120971600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr12:120968000-120971800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:120968000-120971800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:120968000-120971800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr12:120968000-120971800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr12:120968000-120971800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr12:120968000-120971800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr12:120968000-120971800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr12:120968000-120971800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr12:120968000-120971800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr12:120968000-120971800	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr12:120968000-120971800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr12:120968000-120971800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr12:120968000-120971800	Weak transcription	Colon Smooth Muscle	Colon
31	chr12:120968000-120971800	Weak transcription	Fetal Lung	lung
32	chr12:120968000-120971800	Weak transcription	Ovary	ovary
33	chr12:120968000-120971800	Weak transcription	Stomach Mucosa	stomach
34	chr12:120968000-120971800	Weak transcription	Thymus	Thymus
35	chr12:120968000-120972000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr12:120968000-120972000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr12:120968000-120972000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr12:120968000-120972000	Weak transcription	NH-A	brain
39	chr12:120968200-120971200	Weak transcription	Dnd41	blood
40	chr12:120968200-120971600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr12:120968200-120971600	Weak transcription	Fetal Muscle Trunk	muscle
42	chr12:120968200-120971800	Weak transcription	Primary B cells from peripheral blood	blood
43	chr12:120968200-120971800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr12:120968200-120971800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr12:120968200-120971800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr12:120968200-120971800	Weak transcription	Fetal Intestine Large	intestine
47	chr12:120968200-120971800	Weak transcription	Fetal Kidney	kidney
48	chr12:120968200-120971800	Weak transcription	A549	lung
49	chr12:120968200-120971800	Weak transcription	HMEC	breast
50	chr12:120968200-120971800	Weak transcription	HUVEC	blood vessel

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