Variant report

Variant	rs655530
Chromosome Location	chr12:121022275-121022276
allele	A/G
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	CTCF	chr12:121022116-121022836	A549	lung:	n/a	chr12:121022348-121022361
2	CTCF	chr12:121022244-121022713	K562	blood:	n/a	chr12:121022348-121022361
3	MAX	chr12:121022063-121022651	A549	lung:	n/a	chr12:121022320-121022330
4	POLR2A	chr12:121022208-121022464	K562	blood:	n/a	n/a
5	CTCF	chr12:121022091-121022895	SK-N-SH	brain:	n/a	chr12:121022348-121022361
6	ZBTB7A	chr12:121022229-121022603	K562	blood:	n/a	n/a
7	CTCF	chr12:121022178-121022767	K562	blood:	n/a	chr12:121022348-121022361
8	ZNF143	chr12:121022247-121022420	Hela-S3	cervix:	n/a	n/a
9	RAD21	chr12:121022030-121022848	SK-N-SH	brain:	n/a	chr12:121022348-121022362
10	RAD21	chr12:121022268-121022733	MCF-7	breast:	n/a	chr12:121022348-121022362
11	RAD21	chr12:121022153-121022924	HCT-116	colon:	n/a	chr12:121022348-121022362
12	POLR2A	chr12:121022249-121022326	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr12:121022140-121022290	RPTEC	kidney:	n/a	n/a
14	HMGN3	chr12:121022269-121022771	K562	blood:	n/a	n/a
15	BRCA1	chr12:121022241-121022441	Hela-S3	cervix:	n/a	n/a
16	ZNF263	chr12:121022150-121022892	HEK293-T-REx	kidney:	n/a	n/a
17	FOXA2	chr12:121022019-121022643	A549	lung:	n/a	n/a
18	YY1	chr12:121022231-121022751	H1-hESC	embryonic stem cell:	n/a	chr12:121022646-121022657 chr12:121022434-121022448 chr12:121022614-121022628 chr12:121022313-121022327 chr12:121022619-121022628 chr12:121022648-121022662
19	YY1	chr12:121022213-121022698	HCT-116	colon:	n/a	chr12:121022646-121022657 chr12:121022434-121022448 chr12:121022614-121022628 chr12:121022313-121022327 chr12:121022619-121022628 chr12:121022648-121022662
20	POLR2A	chr12:121022187-121022329	HUVEC	blood vessel:	n/a	n/a
21	MAX	chr12:121022219-121022669	K562	blood:	n/a	chr12:121022320-121022330
22	CTCF	chr12:121022268-121022724	MCF-7	breast:	n/a	chr12:121022348-121022361
23	TCF7L2	chr12:121022080-121022804	HCT-116	colon:	n/a	n/a
24	ELF1	chr12:121022100-121022601	GM12878	blood:	n/a	chr12:121022571-121022583
25	POLR2A	chr12:121022202-121022921	H1-hESC	embryonic stem cell:	n/a	n/a
26	SMC3	chr12:121022252-121022843	Hela-S3	cervix:	n/a	chr12:121022348-121022362
27	RAD21	chr12:121022226-121022802	H1-hESC	embryonic stem cell:	n/a	chr12:121022348-121022362
28	MAX	chr12:121022267-121022624	K562	blood:	n/a	chr12:121022320-121022330
29	CTCF	chr12:121022200-121022350	HCM	heart:	n/a	n/a
30	POLR2A	chr12:121022215-121022875	HCT-116	colon:	n/a	n/a
31	YY1	chr12:121022221-121022683	K562	blood:	n/a	chr12:121022646-121022657 chr12:121022434-121022448 chr12:121022614-121022628 chr12:121022313-121022327 chr12:121022619-121022628 chr12:121022648-121022662
32	RCOR1	chr12:121022179-121022791	Hela-S3	cervix:	n/a	n/a
33	E2F6	chr12:121022268-121022620	K562	blood:	n/a	n/a
34	POLR2A	chr12:121022181-121022602	HCT-116	colon:	n/a	n/a
35	RAD21	chr12:121022261-121022640	SK-N-SH_RA	brain:	n/a	chr12:121022348-121022362
36	MAX	chr12:121022095-121022554	A549	lung:	n/a	chr12:121022320-121022330
37	POLR2A	chr12:121022204-121022491	H1-hESC	embryonic stem cell:	n/a	n/a
38	MAX	chr12:121022223-121022630	Hela-S3	cervix:	n/a	chr12:121022320-121022330
39	UBTF	chr12:121022238-121022698	K562	blood:	n/a	n/a
40	CTBP2	chr12:121022152-121022783	H1-hESC	embryonic stem cell:	n/a	n/a
41	RAD21	chr12:121022230-121022760	A549	lung:	n/a	chr12:121022348-121022362
42	CTCF	chr12:121022220-121022370	NHDF-neo	bronchial:	n/a	chr12:121022348-121022361
43	ELF1	chr12:121022269-121022727	K562	blood:	n/a	chr12:121022614-121022626 chr12:121022649-121022661 chr12:121022571-121022583
44	CTCF	chr12:121022160-121022310	GM12872	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:121018818..121020507-chr12:121022267..121023983,3	K562	blood:
2	chr12:121017632..121023235-chr12:121123750..121127979,5	K562	blood:
3	chr12:121021368..121022342-chr12:121149363..121149884,2	K562	blood:
4	chr12:121021971..121022484-chr12:121124436..121124969,2	K562	blood:
5	chr12:121020078..121022631-chr12:121125640..121127142,2	K562	blood:
6	chr12:121021974..121024111-chr12:121148529..121150037,2	MCF-7	breast:
7	chr12:121021284..121022852-chr12:121123778..121125938,2	MCF-7	breast:
8	chr12:121020419..121023213-chr12:121085697..121088719,3	MCF-7	breast:

Variant related genes	Relation type
POP5	TF binding region
ENSG00000167272	Chromatin interaction
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];0.80[ASN][1000 genomes]
rs1050187	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10744752	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10774549	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10774551	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10774553	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10774555	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10774560	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[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];0.87[ASN][1000 genomes]
rs10849754	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10849757	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10849758	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10849759	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10849766	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10849767	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11065132	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11065145	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11065149	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11065150	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11065151	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11065154	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12309824	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12312613	0.90[EUR][1000 genomes]
rs12370495	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12371550	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12813930	0.85[ASN][1000 genomes]
rs12814055	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1563333	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2138251	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2168319	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2233676	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2235217	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2235218	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2393590	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3213565	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3742052	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3759394	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3759396	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3893104	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3916065	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4766966	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4766968	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4766969	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4767897	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4767902	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4767903	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4767904	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4767905	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4767906	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4767910	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4767911	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4767912	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4767914	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4767916	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs509445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs516479	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs523522	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs524735	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs546417	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55848094	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56029862	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs579919	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs585510	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs603574	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs643372	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs651627	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs670568	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs687873	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7136951	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs71454645	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7308053	0.83[EUR][1000 genomes]
rs7471	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7488320	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9040	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9788155	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9795621	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[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
rs655530	COQ5	cis	Esophagus Muscularis	GTEx
rs655530	COQ5	cis	Skin Sun Exposed Lower leg	GTEx
rs655530	COQ5	cis	Heart Left Ventricle	GTEx
rs655530	COQ5	cis	lung	GTEx
rs655530	COQ5	cis	Artery Aorta	GTEx
rs655530	COQ5	cis	Artery Tibial	GTEx
rs655530	COQ5	Cis_1M	lymphoblastoid	RTeQTL
rs655530	COQ5	cis	Muscle Skeletal	GTEx
rs655530	COQ5	cis	Adipose Subcutaneous	GTEx
rs655530	COQ5	cis	Nerve Tibial	GTEx

Chromatin state (count:114 , 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	chr12:121019800-121022600	Weak transcription	Small Intestine	intestine
3	chr12:121020800-121022800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:121021000-121022800	Active TSS	Brain Anterior Caudate	brain
5	chr12:121021000-121022800	Bivalent Enhancer	Fetal Brain Male	brain
6	chr12:121021000-121022800	Flanking Active TSS	GM12878-XiMat	blood
7	chr12:121021000-121023000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
8	chr12:121021000-121023000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:121021000-121023000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:121021200-121022400	Enhancers	Esophagus	oesophagus
11	chr12:121021200-121022800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:121021200-121022800	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr12:121021200-121022800	Enhancers	Spleen	Spleen
14	chr12:121021200-121023000	Active TSS	H9 Cell Line	embryonic stem cell
15	chr12:121021200-121023000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
16	chr12:121021200-121023000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr12:121021400-121022400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
18	chr12:121021400-121022400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
19	chr12:121021400-121022800	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr12:121021400-121022800	Bivalent Enhancer	Fetal Thymus	thymus
21	chr12:121021400-121022800	Enhancers	Stomach Mucosa	stomach
22	chr12:121021400-121023000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr12:121021400-121023000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
24	chr12:121021400-121023000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
25	chr12:121021600-121022400	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr12:121021600-121022800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr12:121021600-121022800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
28	chr12:121021600-121022800	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr12:121021800-121022400	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr12:121021800-121022400	Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr12:121021800-121022600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
32	chr12:121021800-121022600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr12:121021800-121022600	Active TSS	Brain Angular Gyrus	brain
34	chr12:121021800-121022800	Enhancers	Primary B cells from cord blood	blood
35	chr12:121021800-121022800	Active TSS	K562	blood
36	chr12:121021800-121023000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
37	chr12:121021800-121023000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
38	chr12:121021800-121023000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:121021800-121023000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
40	chr12:121021800-121023000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr12:121021800-121023000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr12:121021800-121023000	Active TSS	Brain Hippocampus Middle	brain
43	chr12:121021800-121023000	Active TSS	Rectal Smooth Muscle	rectum
44	chr12:121022000-121022400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr12:121022000-121022400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
46	chr12:121022000-121022400	Flanking Active TSS	NHEK	skin
47	chr12:121022000-121022600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr12:121022000-121022600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr12:121022000-121022800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr12:121022000-121022800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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