Variant report

Variant	rs524735
Chromosome Location	chr12:121022099-121022100
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr12:121022063-121022651	A549	lung:	n/a	chr12:121022320-121022330
2	CTCF	chr12:121022091-121022895	SK-N-SH	brain:	n/a	chr12:121022348-121022361
3	RAD21	chr12:121022030-121022848	SK-N-SH	brain:	n/a	chr12:121022348-121022362
4	FOXA2	chr12:121022019-121022643	A549	lung:	n/a	n/a
5	TCF7L2	chr12:121022080-121022804	HCT-116	colon:	n/a	n/a
6	MAX	chr12:121022095-121022554	A549	lung:	n/a	chr12:121022320-121022330

No.	Distal block	Cell Line	Cell type
1	chr12:121017632..121023235-chr12:121123750..121127979,5	K562	blood:
2	chr12:121021368..121022342-chr12:121149363..121149884,2	K562	blood:
3	chr12:121021971..121022484-chr12:121124436..121124969,2	K562	blood:
4	chr12:121020078..121022631-chr12:121125640..121127142,2	K562	blood:
5	chr12:121021974..121024111-chr12:121148529..121150037,2	MCF-7	breast:
6	chr12:121021284..121022852-chr12:121123778..121125938,2	MCF-7	breast:
7	chr12:121020419..121023213-chr12:121085697..121088719,3	MCF-7	breast:

Variant related genes	Relation type
POP5	TF binding region
ENSG00000157782	Chromatin interaction
ENSG00000110917	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs1048830	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1050187	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10744752	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10774549	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10774551	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10774553	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10774555	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10774560	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10774561	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10849753	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10849754	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10849757	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10849758	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10849759	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10849766	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849767	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11065132	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11065145	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11065149	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11065150	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11065151	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11065154	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12309824	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12312613	0.90[EUR][1000 genomes]
rs12370495	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12371550	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12813930	0.87[ASN][1000 genomes]
rs12814055	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1563333	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2138251	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2168319	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2233676	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2235217	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2235218	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2393590	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3213565	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3742052	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3759394	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3759396	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3893104	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3916065	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4766966	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4766968	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4766969	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4767897	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4767902	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4767903	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4767904	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4767905	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4767906	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4767910	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4767911	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4767912	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4767914	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4767916	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs509445	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs516479	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs523522	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs546417	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55848094	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56029862	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs579919	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs585510	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs603574	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs643372	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs651627	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs655530	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs670568	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs687873	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7136951	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71454645	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7308053	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7471	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7488320	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9040	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9788155	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9795621	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[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	nsv973944	chr12:121017088-121027122	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs524735	COQ5	cis	Adipose Subcutaneous	GTEx
rs524735	COQ5	cis	Nerve Tibial	GTEx
rs524735	COQ5	cis	Skin Sun Exposed Lower leg	GTEx
rs524735	COQ5	cis	Muscle Skeletal	GTEx
rs524735	COQ5	cis	Artery Aorta	GTEx
rs524735	COQ5	Cis_1M	lymphoblastoid	RTeQTL
rs524735	COQ5	cis	Artery Tibial	GTEx
rs524735	COQ5	cis	lung	GTEx
rs524735	COQ5	cis	Heart Left Ventricle	GTEx
rs524735	COQ5	cis	Esophagus Muscularis	GTEx

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121019600-121027200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:121019800-121022200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:121019800-121022200	Weak transcription	Aorta	Aorta
4	chr12:121019800-121022200	Weak transcription	Left Ventricle	heart
5	chr12:121019800-121022600	Weak transcription	Small Intestine	intestine
6	chr12:121020000-121022200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr12:121020000-121022200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr12:121020000-121022200	Weak transcription	Ovary	ovary
9	chr12:121020000-121022200	Weak transcription	Right Ventricle	heart
10	chr12:121020800-121022200	Enhancers	Primary hematopoietic stem cells	blood
11	chr12:121020800-121022200	Bivalent Enhancer	Fetal Stomach	stomach
12	chr12:121020800-121022200	Enhancers	HUVEC	blood vessel
13	chr12:121020800-121022800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr12:121021000-121022200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
15	chr12:121021000-121022200	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr12:121021000-121022200	Enhancers	HMEC	breast
17	chr12:121021000-121022800	Active TSS	Brain Anterior Caudate	brain
18	chr12:121021000-121022800	Bivalent Enhancer	Fetal Brain Male	brain
19	chr12:121021000-121022800	Flanking Active TSS	GM12878-XiMat	blood
20	chr12:121021000-121023000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
21	chr12:121021000-121023000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr12:121021000-121023000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:121021200-121022200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:121021200-121022200	Flanking Active TSS	Brain Cingulate Gyrus	brain
25	chr12:121021200-121022200	Enhancers	Pancreas	Pancrea
26	chr12:121021200-121022400	Enhancers	Esophagus	oesophagus
27	chr12:121021200-121022800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr12:121021200-121022800	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr12:121021200-121022800	Enhancers	Spleen	Spleen
30	chr12:121021200-121023000	Active TSS	H9 Cell Line	embryonic stem cell
31	chr12:121021200-121023000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
32	chr12:121021200-121023000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr12:121021400-121022200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr12:121021400-121022200	Active TSS	Muscle Satellite Cultured Cells	--
35	chr12:121021400-121022200	Bivalent Enhancer	Fetal Intestine Small	intestine
36	chr12:121021400-121022200	Enhancers	Psoas Muscle	Psoas
37	chr12:121021400-121022200	Flanking Bivalent TSS/Enh	HepG2	liver
38	chr12:121021400-121022400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
39	chr12:121021400-121022400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr12:121021400-121022800	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr12:121021400-121022800	Bivalent Enhancer	Fetal Thymus	thymus
42	chr12:121021400-121022800	Enhancers	Stomach Mucosa	stomach
43	chr12:121021400-121023000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
44	chr12:121021400-121023000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
45	chr12:121021400-121023000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
46	chr12:121021600-121022200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr12:121021600-121022200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
48	chr12:121021600-121022200	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr12:121021600-121022200	Bivalent Enhancer	Fetal Intestine Large	intestine
50	chr12:121021600-121022200	Flanking Active TSS	Placenta	Placenta

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