Variant report

Variant	rs16950305
Chromosome Location	chr12:121022481-121022482
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:221)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:221 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:121022380-121022530	HVMF	connective:	n/a	n/a
2	CTCF	chr12:121022420-121022570	GM12867	blood:	n/a	n/a
3	CTCF	chr12:121022116-121022836	A549	lung:	n/a	chr12:121022348-121022361
4	CTCF	chr12:121022244-121022713	K562	blood:	n/a	chr12:121022348-121022361
5	RAD21	chr12:121022387-121022659	HepG2	liver:	n/a	n/a
6	MAX	chr12:121022063-121022651	A549	lung:	n/a	chr12:121022320-121022330
7	CTCF	chr12:121022440-121022590	NHDF-neo	bronchial:	n/a	n/a
8	CTCF	chr12:121022460-121022610	MCF-7	breast:	n/a	n/a
9	CTCF	chr12:121022460-121022610	GM12868	blood:	n/a	n/a
10	CTCF	chr12:121022423-121022603	GM12878	blood:	n/a	n/a
11	CTCF	chr12:121022400-121022550	GM12873	blood:	n/a	n/a
12	RAD21	chr12:121022331-121022680	IMR90	lung:	n/a	chr12:121022348-121022362
13	CTCF	chr12:121022420-121022570	GM06990	blood:	n/a	n/a
14	CTCF	chr12:121022400-121022550	RPTEC	kidney:	n/a	n/a
15	EGR1	chr12:121022406-121022578	K562	blood:	n/a	n/a
16	CTCF	chr12:121022091-121022895	SK-N-SH	brain:	n/a	chr12:121022348-121022361
17	ZNF384	chr12:121022385-121023023	K562	blood:	n/a	n/a
18	MAZ	chr12:121022319-121022665	K562	blood:	n/a	chr12:121022320-121022330
19	RAD21	chr12:121022331-121022569	GM12878	blood:	n/a	chr12:121022348-121022362
20	CTCF	chr12:121022420-121022570	AoAF	blood vessel:	n/a	n/a
21	UBTF	chr12:121022325-121022691	K562	blood:	n/a	n/a
22	CTCF	chr12:121022346-121022596	SK-N-SH_RA	brain:	n/a	chr12:121022348-121022361
23	CTCF	chr12:121022381-121022593	Pancreas_OC	pancreas:	n/a	n/a
24	CTCF	chr12:121022420-121022570	NB4	blood:	n/a	n/a
25	RAD21	chr12:121022354-121022682	H1-hESC	embryonic stem cell:	n/a	n/a
26	ZBTB7A	chr12:121022229-121022603	K562	blood:	n/a	n/a
27	CTCF	chr12:121022400-121022550	GM12869	blood:	n/a	n/a
28	CTCF	chr12:121022178-121022767	K562	blood:	n/a	chr12:121022348-121022361
29	CTCF	chr12:121022480-121022630	GM12865	blood:	n/a	n/a
30	RAD21	chr12:121022030-121022848	SK-N-SH	brain:	n/a	chr12:121022348-121022362
31	RAD21	chr12:121022268-121022733	MCF-7	breast:	n/a	chr12:121022348-121022362
32	CTCF	chr12:121022418-121022583	Medullo	brain:	n/a	n/a
33	RAD21	chr12:121022153-121022924	HCT-116	colon:	n/a	chr12:121022348-121022362
34	CTCF	chr12:121022434-121022582	MCF-7	breast:	n/a	n/a
35	CTCF	chr12:121022440-121022590	GM12872	blood:	n/a	n/a
36	CTCF	chr12:121022420-121022570	AG10803	skin:	n/a	n/a
37	TBP	chr12:121022385-121022544	K562	blood:	n/a	n/a
38	TEAD4	chr12:121022438-121022823	H1-hESC	embryonic stem cell:	n/a	n/a
39	RAD21	chr12:121022392-121022616	K562	blood:	n/a	n/a
40	CTCF	chr12:121022420-121022570	HL-60	blood:	n/a	n/a
41	CTCF	chr12:121022350-121022621	T-47D	breast:	n/a	n/a
42	REST	chr12:121022393-121022634	K562	blood:	n/a	n/a
43	CTCF	chr12:121022446-121022575	ProgFib	skin:	n/a	n/a
44	CTCF	chr12:121022440-121022590	SK-N-SH_RA	brain:	n/a	n/a
45	CTCF	chr12:121022440-121022590	HCFaa	heart:	n/a	n/a
46	RFX5	chr12:121022300-121022609	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr12:121022407-121022575	GM13976	blood:	n/a	n/a
48	CTCF	chr12:121022440-121022590	BJ	skin:	n/a	n/a
49	CTCF	chr12:121022400-121022550	HMF	breast:	n/a	n/a
50	CTCF	chr12:121022420-121022570	RPTEC	kidney:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:121022439-121022489	SK-N-SH_RA	brain:	n/a
2	chr12:121022439-121022489	HCM	heart:	n/a
3	chr12:121022439-121022489	Hepatocyte	liver:	n/a
4	chr12:121022439-121022489	GM12891	blood:	n/a
5	chr12:121022439-121022489	HPAEpiC	pulmonary alveolar:	n/a
6	chr12:121022439-121022489	ECC-1	luminal epithelium:	n/a
7	chr12:121022439-121022489	GM19239	blood:	n/a
8	chr12:121022439-121022489	T-47D	breast:	n/a
9	chr12:121022439-121022489	HL-60	blood:	n/a
10	chr12:121022439-121022489	GM12878	blood:	n/a
11	chr12:121022439-121022489	HUVEC	blood vessel:	n/a
12	chr12:121022439-121022489	HRE	kidney:	n/a
13	chr12:121022439-121022489	HCPEpiC	choroid plexus:	n/a
14	chr12:121022439-121022489	AG10803	skin:	n/a
15	chr12:121022439-121022489	SKMC	muscle:	n/a
16	chr12:121022439-121022489	A549	lung:	n/a
17	chr12:121022439-121022489	Jurkat	blood:	n/a
18	chr12:121022439-121022489	HRCEpiC	kidney:	n/a
19	chr12:121022439-121022489	SAEC	small airway:	n/a
20	chr12:121022439-121022489	U87	brain:	n/a
21	chr12:121022439-121022489	HAEpiC	amniotic membrane:	n/a
22	chr12:121022439-121022489	RPTEC	kidney:	n/a
23	chr12:121022439-121022489	AoSMC	blood vessel:	n/a
24	chr12:121022439-121022489	AG09309	skin:	n/a
25	chr12:121022439-121022489	Hela-S3	cervix:	n/a
26	chr12:121022439-121022489	NH-A	brain:	n/a
27	chr12:121022439-121022489	HCT-116	colon:	n/a
28	chr12:121022439-121022489	AG04450	lung:	fetal
29	chr12:121022439-121022489	BE2_C	brain:	n/a
30	chr12:121022439-121022489	HRPEpiC	eye:	n/a
31	chr12:121022439-121022489	HEK293	kidney:	embryo
32	chr12:121022439-121022489	IMR90	lung:	fetal
33	chr12:121022439-121022489	GM06990	blood:	n/a
34	chr12:121022439-121022489	NHDF-neo	bronchial:	n/a
35	chr12:121022439-121022489	SK-N-SH	brain:	n/a
36	chr12:121022439-121022489	HNPCEpiC	eye:	n/a
37	chr12:121022439-121022489	PrEC	prostate:	n/a
38	chr12:121022439-121022489	ovcar-3	ovarian:	n/a
39	chr12:121022439-121022489	PANC-1	pancreas:	n/a
40	chr12:121022439-121022489	NHBE	bronchial:	n/a
41	chr12:121022439-121022489	AG04449	skin:	fetal
42	chr12:121022439-121022489	HepG2	liver:	n/a
43	chr12:121022439-121022489	NB4	blood:	n/a
44	chr12:121022439-121022489	BJ	skin:	n/a
45	chr12:121022439-121022489	HEEpiC	esophagus:	n/a
46	chr12:121022439-121022489	GM12892	blood:	n/a
47	chr12:121022439-121022489	SK-N-MC	brain:	n/a
48	chr12:121022439-121022489	LNCaP	prostate:	n/a
49	chr12:121022439-121022489	CMK	blood:	n/a
50	chr12:121022439-121022489	Caco-2	colon:	n/a

(count:8 , 50 per page) page: 1

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	chr12:121021971..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:
8	chr12:121018584..121021388-chr12:121022313..121024823,2	MCF-7	breast:

No data

Variant related genes	Relation type
POP5	TF binding region
POP5	CpG island
ENSG00000157782	Chromatin interaction
ENSG00000110917	Chromatin interaction
ENSG00000167272	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10789	0.86[JPT][hapmap]
rs11065140	1.00[CHD][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs11065142	1.00[CHD][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs11548262	0.84[ASN][1000 genomes]
rs11608416	0.86[JPT][hapmap]
rs11608807	0.88[ASN][1000 genomes]
rs11611781	0.93[ASN][1000 genomes]
rs11611814	0.95[ASN][1000 genomes]
rs11612519	0.86[JPT][hapmap];0.95[ASN][1000 genomes]
rs11613214	1.00[CHD][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs11614224	0.86[ASN][1000 genomes]
rs11615264	0.95[ASN][1000 genomes]
rs11615719	0.84[ASN][1000 genomes]
rs11829765	0.88[ASN][1000 genomes]
rs16950293	1.00[CHD][hapmap];0.86[JPT][hapmap];0.95[ASN][1000 genomes]
rs2280168	0.86[JPT][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs3742049	1.00[CHD][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs3759402	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs3817301	0.86[JPT][hapmap];0.95[ASN][1000 genomes]
rs3829291	0.95[ASN][1000 genomes]
rs4439575	0.95[ASN][1000 genomes]
rs57646360	0.81[ASN][1000 genomes]
rs59088579	0.90[ASN][1000 genomes]
rs59201986	0.84[ASN][1000 genomes]
rs60162888	0.90[ASN][1000 genomes]
rs6490292	0.84[ASN][1000 genomes]
rs66840048	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7027	1.00[CHD][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs719449	0.90[ASN][1000 genomes]
rs719450	0.83[ASW][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.85[LWK][hapmap];0.85[MKK][hapmap];0.93[YRI][hapmap];0.90[ASN][1000 genomes]
rs7296473	0.85[JPT][hapmap];0.95[ASN][1000 genomes]
rs7297861	0.95[ASN][1000 genomes]
rs7299954	0.93[ASN][1000 genomes]
rs7314103	0.84[ASN][1000 genomes]
rs73403923	0.84[ASN][1000 genomes]
rs73403943	0.90[ASN][1000 genomes]
rs73403947	0.90[ASN][1000 genomes]
rs73403968	0.88[ASN][1000 genomes]
rs73403975	0.88[ASN][1000 genomes]
rs73405628	0.95[ASN][1000 genomes]
rs7961895	0.84[ASN][1000 genomes]
rs7962410	0.88[ASN][1000 genomes]
rs7964008	1.00[CHD][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs7973555	0.86[JPT][hapmap];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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16950305	COQ5	cis	lymphoblastoid	seeQTL

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	chr12:121021200-121022800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:121021200-121022800	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr12:121021200-121022800	Enhancers	Spleen	Spleen
13	chr12:121021200-121023000	Active TSS	H9 Cell Line	embryonic stem cell
14	chr12:121021200-121023000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
15	chr12:121021200-121023000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr12:121021400-121022800	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr12:121021400-121022800	Bivalent Enhancer	Fetal Thymus	thymus
18	chr12:121021400-121022800	Enhancers	Stomach Mucosa	stomach
19	chr12:121021400-121023000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr12:121021400-121023000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
21	chr12:121021400-121023000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
22	chr12:121021600-121022800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:121021600-121022800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
24	chr12:121021600-121022800	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr12:121021800-121022600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
26	chr12:121021800-121022600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr12:121021800-121022600	Active TSS	Brain Angular Gyrus	brain
28	chr12:121021800-121022800	Enhancers	Primary B cells from cord blood	blood
29	chr12:121021800-121022800	Active TSS	K562	blood
30	chr12:121021800-121023000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
31	chr12:121021800-121023000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
32	chr12:121021800-121023000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr12:121021800-121023000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
34	chr12:121021800-121023000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr12:121021800-121023000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr12:121021800-121023000	Active TSS	Brain Hippocampus Middle	brain
37	chr12:121021800-121023000	Active TSS	Rectal Smooth Muscle	rectum
38	chr12:121022000-121022600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr12:121022000-121022600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr12:121022000-121022800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr12:121022000-121022800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr12:121022000-121022800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr12:121022000-121022800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr12:121022000-121022800	Active TSS	A549	lung
45	chr12:121022000-121022800	Active TSS	Hela-S3	cervix
46	chr12:121022000-121023000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
47	chr12:121022000-121023000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
48	chr12:121022000-121023000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr12:121022000-121023000	Enhancers	Lung	lung
50	chr12:121022200-121022600	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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