Variant report

Variant	rs1048830
Chromosome Location	chr12:120882217-120882218
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:120880338-120884699	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr12:120881629-120883159	PFSK-1	brain:	n/a	n/a
3	POLR2A	chr12:120881718-120882224	GM12878	blood:	n/a	n/a
4	POLR2A	chr12:120881588-120884497	K562	blood:	n/a	n/a
5	POLR2A	chr12:120881689-120882312	GM12878	blood:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120761038..120763452-chr12:120881221..120883807,2	K562	blood:
2	chr12:120871367..120873867-chr12:120881238..120883410,2	K562	blood:
3	chr12:120881316..120885805-chr12:120906046..120909209,6	MCF-7	breast:
4	chr12:120794486..120796567-chr12:120881836..120883706,2	MCF-7	breast:
5	chr12:120761952..120764940-chr12:120881221..120882781,2	K562	blood:
6	chr12:120754074..120755627-chr12:120881986..120884098,2	K562	blood:
7	chr12:120728284..120732232-chr12:120880260..120886911,13	MCF-7	breast:
8	chr12:120882042..120885526-chr12:120971268..120975128,6	K562	blood:
9	chr12:120769968..120772533-chr12:120880637..120882245,2	MCF-7	breast:
10	chr12:120881121..120885738-chr12:120933710..120938677,7	MCF-7	breast:
11	chr12:120880785..120883723-chr12:120932657..120934399,2	K562	blood:
12	chr12:120879789..120885007-chr12:120906681..120910772,6	K562	blood:
13	chr12:120836022..120837604-chr12:120880612..120883429,2	MCF-7	breast:
14	chr12:120880802..120886804-chr12:120903895..120909908,12	K562	blood:
15	chr12:120881273..120884035-chr12:120898335..120900526,2	K562	blood:

No data

Variant related genes	Relation type
GATC	TF binding region
ENSG00000110871	Chromatin interaction
ENSG00000170890	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000111786	Chromatin interaction
ENSG00000088986	Chromatin interaction
ENSG00000248008	Chromatin interaction
ENSG00000200795	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]
rs1050187	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10744752	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10774549	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10774551	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10774553	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10774555	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10774560	0.81[ASN][1000 genomes]
rs10849749	0.85[ASN][1000 genomes]
rs10849753	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10849754	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10849757	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10849758	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10849759	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10849766	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11065132	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11065145	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11065149	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11065150	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11065151	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11065154	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12309824	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12370495	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12371550	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12813930	0.82[ASN][1000 genomes]
rs12814055	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1563333	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2138251	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2168319	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2233676	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2235217	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2235218	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2393590	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3213565	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3742052	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3759394	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3759396	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3893104	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3916065	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4766966	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4766968	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4766969	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4767897	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4767902	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4767903	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4767904	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4767905	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4767906	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4767910	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4767911	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4767912	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4767914	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4767916	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs509445	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs516479	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs523522	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs524735	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs546417	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55848094	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56029862	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs579919	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs585510	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs603574	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61945857	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs643372	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs651627	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs655530	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs670568	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs687873	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7132474	0.85[ASN][1000 genomes]
rs7136951	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71454645	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7308053	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73221357	0.84[ASN][1000 genomes]
rs7471	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7488320	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9040	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9788155	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9795621	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[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	nsv819389	chr12:120880098-120882476	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs1048830	COQ5	cis	Adipose Subcutaneous	GTEx
rs1048830	COQ5	cis	Heart Left Ventricle	GTEx
rs1048830	COQ5	cis	Skin Sun Exposed Lower leg	GTEx
rs1048830	COQ5	cis	Esophagus Muscularis	GTEx
rs1048830	COQ5	cis	Artery Tibial	GTEx
rs1048830	COQ5	Cis_1M	lymphoblastoid	RTeQTL
rs1048830	COQ5	cis	Artery Aorta	GTEx
rs1048830	COQ5	cis	Nerve Tibial	GTEx
rs1048830	COQ5	cis	Muscle Skeletal	GTEx
rs1048830	COQ5	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120876400-120883400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:120876800-120883400	Weak transcription	Esophagus	oesophagus
3	chr12:120877000-120883000	Weak transcription	Pancreas	Pancrea
4	chr12:120877000-120883200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:120877200-120883000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:120877200-120883200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr12:120877400-120882800	Strong transcription	Fetal Muscle Trunk	muscle
8	chr12:120877800-120882600	Strong transcription	Left Ventricle	heart
9	chr12:120877800-120883400	Weak transcription	Stomach Mucosa	stomach
10	chr12:120878000-120882400	Strong transcription	Primary B cells from peripheral blood	blood
11	chr12:120878000-120882600	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr12:120878000-120882600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr12:120878000-120882600	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr12:120878000-120882600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr12:120878000-120882600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:120878000-120882600	Strong transcription	Placenta	Placenta
17	chr12:120878000-120882600	Strong transcription	Rectal Mucosa Donor 31	rectum
18	chr12:120878000-120882600	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr12:120878000-120882800	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr12:120878000-120882800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr12:120878000-120882800	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr12:120878000-120882800	Strong transcription	Fetal Thymus	thymus
23	chr12:120878000-120883000	Strong transcription	Fetal Muscle Leg	muscle
24	chr12:120878000-120883200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr12:120878000-120883200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:120878000-120883200	Weak transcription	Fetal Brain Male	brain
27	chr12:120878000-120883200	Weak transcription	Right Atrium	heart
28	chr12:120878000-120883400	Weak transcription	Small Intestine	intestine
29	chr12:120878200-120882400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:120878200-120882400	Strong transcription	Fetal Intestine Large	intestine
31	chr12:120878200-120882400	Strong transcription	HUVEC	blood vessel
32	chr12:120878200-120882600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr12:120878200-120882600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr12:120878200-120882600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr12:120878200-120882800	Strong transcription	Primary T cells from cord blood	blood
36	chr12:120878200-120882800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr12:120878200-120882800	Strong transcription	Brain Hippocampus Middle	brain
38	chr12:120878200-120882800	Weak transcription	Fetal Heart	heart
39	chr12:120878200-120882800	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr12:120878200-120882800	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr12:120878200-120883000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr12:120878200-120883000	Strong transcription	Fetal Brain Female	brain
43	chr12:120878400-120882400	Strong transcription	Skeletal Muscle Male	skeletal muscle
44	chr12:120878400-120882600	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr12:120878400-120882600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr12:120878600-120883000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr12:120878800-120882600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr12:120879000-120882600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr12:120879200-120882600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr12:120879200-120883000	Weak transcription	Brain Germinal Matrix	brain

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