Variant report

Variant	rs12043252
Chromosome Location	chr1:220960928-220960929
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:97)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:97 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFYA	chr1:220960668-220961028	Hela-S3	cervix:	n/a	n/a
2	USF1	chr1:220960630-220960970	A549	lung:	n/a	n/a
3	MAX	chr1:220959764-220960971	HepG2	liver:	n/a	n/a
4	TEAD4	chr1:220960710-220961084	HepG2	liver:	n/a	n/a
5	POLR2A	chr1:220959533-220961147	Hela-S3	cervix:	n/a	n/a
6	MAZ	chr1:220959720-220961010	Hela-S3	cervix:	n/a	n/a
7	USF1	chr1:220960632-220960998	A549	lung:	n/a	n/a
8	GTF2F1	chr1:220960541-220961129	Hela-S3	cervix:	n/a	n/a
9	USF1	chr1:220960637-220960962	HepG2	liver:	n/a	n/a
10	HEY1	chr1:220959476-220961035	HepG2	liver:	n/a	n/a
11	USF1	chr1:220960540-220961035	H1-hESC	embryonic stem cell:	n/a	n/a
12	MYC	chr1:220959942-220960965	NB4	blood:	n/a	n/a
13	MAX	chr1:220959476-220961100	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr1:220958619-220961999	Hela-S3	cervix:	n/a	n/a
15	E2F4	chr1:220960643-220960956	MCF10A-Er-Src	breast:	n/a	chr1:220960776-220960790
16	POLR2A	chr1:220959565-220961053	HepG2	liver:	n/a	n/a
17	MYC	chr1:220959792-220961085	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr1:220959941-220961110	ECC-1	luminal epithelium:	n/a	n/a
19	USF2	chr1:220960662-220961007	H1-hESC	embryonic stem cell:	n/a	chr1:220960823-220960834
20	POLR2A	chr1:220960501-220960988	HCT-116	colon:	n/a	n/a
21	TFAP2C	chr1:220959558-220961112	Hela-S3	cervix:	n/a	n/a
22	TCF7L2	chr1:220959780-220962626	Hela-S3	cervix:	n/a	n/a
23	USF1	chr1:220960629-220960999	A549	lung:	n/a	n/a
24	USF1	chr1:220960576-220960976	SK-N-SH_RA	brain:	n/a	n/a
25	MAX	chr1:220960449-220960954	MCF-7	breast:	n/a	n/a
26	USF1	chr1:220960472-220961217	HCT-116	colon:	n/a	n/a
27	POLR2A	chr1:220960649-220960982	HCT-116	colon:	n/a	n/a
28	MAX	chr1:220959909-220961037	ECC-1	luminal epithelium:	n/a	n/a
29	USF1	chr1:220960698-220960963	SK-N-SH_RA	brain:	n/a	n/a
30	MAX	chr1:220959794-220961136	ECC-1	luminal epithelium:	n/a	n/a
31	RCOR1	chr1:220959660-220961124	Hela-S3	cervix:	n/a	n/a
32	MAX	chr1:220959999-220960961	NB4	blood:	n/a	n/a
33	YY1	chr1:220959453-220960995	HepG2	liver:	n/a	chr1:220960128-220960137 chr1:220959814-220959828 chr1:220959704-220959715 chr1:220960582-220960593 chr1:220960125-220960134 chr1:220959735-220959749
34	USF1	chr1:220960633-220960984	A549	lung:	n/a	n/a
35	POLR2A	chr1:220959944-220961036	MCF-7	breast:	n/a	n/a
36	E2F6	chr1:220960386-220961040	H1-hESC	embryonic stem cell:	n/a	chr1:220960572-220960581 chr1:220960574-220960583 chr1:220960776-220960790
37	SMC3	chr1:220959730-220961069	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr1:220960553-220960970	HepG2	liver:	n/a	n/a
39	TBP	chr1:220959884-220960985	HepG2	liver:	n/a	n/a
40	TAF1	chr1:220960502-220961017	ECC-1	luminal epithelium:	n/a	n/a
41	POLR2A	chr1:220959843-220961233	Hela-S3	cervix:	n/a	n/a
42	USF1	chr1:220960612-220960941	A549	lung:	n/a	n/a
43	ZEB1	chr1:220959446-220961221	HepG2	liver:	n/a	n/a
44	USF1	chr1:220960626-220961047	SK-N-SH	brain:	n/a	n/a
45	POLR2A	chr1:220959908-220961154	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr1:220959875-220961202	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr1:220960599-220960939	ECC-1	luminal epithelium:	n/a	n/a
48	USF2	chr1:220960568-220961050	Hela-S3	cervix:	n/a	chr1:220960823-220960834
49	CTBP2	chr1:220959280-220961075	H1-hESC	embryonic stem cell:	n/a	n/a
50	USF1	chr1:220960628-220961008	A549	lung:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:220956529..220963831-chr1:220968712..220974793,12	MCF-7	breast:
2	chr1:220920087..220922800-chr1:220958239..220960991,2	MCF-7	breast:
3	chr1:220932972..220935057-chr1:220960206..220962159,2	MCF-7	breast:
4	chr1:220956374..220960540-chr1:220960774..220963878,4	K562	blood:
5	chr1:220958915..220961807-chr1:220964103..220968214,4	MCF-7	breast:
6	chr1:220443657..220445570-chr1:220960265..220962335,2	MCF-7	breast:
7	chr1:220958940..220961119-chr1:220964763..220966587,2	MCF-7	breast:

No data

Variant related genes	Relation type
MARC1	TF binding region
ENSG00000186205	Chromatin interaction
ENSG00000117791	Chromatin interaction

Extended variants
information (count: 129 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:129)

rs_ID	r²[population]
rs10863563	0.95[ASN][1000 genomes]
rs11118602	0.95[ASN][1000 genomes]
rs11118603	0.95[ASN][1000 genomes]
rs11118604	1.00[EUR][1000 genomes]
rs1113125	0.95[ASN][1000 genomes]
rs11557506	0.95[ASN][1000 genomes]
rs12021979	0.88[ASN][1000 genomes]
rs12023067	0.95[ASN][1000 genomes]
rs12023202	0.95[ASN][1000 genomes]
rs12023249	0.95[ASN][1000 genomes]
rs12023303	0.95[ASN][1000 genomes]
rs12023484	0.88[ASN][1000 genomes]
rs12024252	0.95[ASN][1000 genomes]
rs12026176	0.95[ASN][1000 genomes]
rs12026612	0.95[ASN][1000 genomes]
rs12026813	0.88[ASN][1000 genomes]
rs12026877	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12027068	0.95[ASN][1000 genomes]
rs12027930	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12028584	0.95[ASN][1000 genomes]
rs12028887	0.88[ASN][1000 genomes]
rs12029761	0.92[ASN][1000 genomes]
rs12029763	0.95[ASN][1000 genomes]
rs12029901	1.00[EUR][1000 genomes]
rs12030190	0.87[ASN][1000 genomes]
rs12030249	0.95[ASN][1000 genomes]
rs12030434	0.95[ASN][1000 genomes]
rs12030456	0.95[ASN][1000 genomes]
rs12031217	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12031225	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12031479	0.95[ASN][1000 genomes]
rs12031951	1.00[ASN][1000 genomes]
rs12032061	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12032336	0.95[ASN][1000 genomes]
rs12033121	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12033644	0.95[ASN][1000 genomes]
rs12033645	0.95[ASN][1000 genomes]
rs12033732	0.95[ASN][1000 genomes]
rs12033808	0.82[ASN][1000 genomes]
rs12034685	0.95[ASN][1000 genomes]
rs12034691	0.95[ASN][1000 genomes]
rs12038224	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12039043	0.95[ASN][1000 genomes]
rs12039064	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12039091	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12039273	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12039436	0.95[ASN][1000 genomes]
rs12041919	0.81[ASN][1000 genomes]
rs12041923	0.81[ASN][1000 genomes]
rs12041952	0.81[ASN][1000 genomes]
rs12041956	0.81[ASN][1000 genomes]
rs12043169	0.81[ASN][1000 genomes]
rs12043238	0.81[ASN][1000 genomes]
rs12046425	0.81[ASN][1000 genomes]
rs12046511	0.81[ASN][1000 genomes]
rs12046515	0.81[ASN][1000 genomes]
rs12047809	0.95[ASN][1000 genomes]
rs12047899	0.88[ASN][1000 genomes]
rs12048740	0.95[ASN][1000 genomes]
rs12048861	0.95[ASN][1000 genomes]
rs12049111	0.88[ASN][1000 genomes]
rs1389745	0.95[ASN][1000 genomes]
rs1389746	0.95[ASN][1000 genomes]
rs1389747	0.95[ASN][1000 genomes]
rs17008639	0.95[ASN][1000 genomes]
rs17008644	0.92[ASN][1000 genomes]
rs17008646	0.92[ASN][1000 genomes]
rs17008649	0.95[ASN][1000 genomes]
rs17008667	0.95[ASN][1000 genomes]
rs17008670	0.95[ASN][1000 genomes]
rs17008680	0.95[ASN][1000 genomes]
rs1874115	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1874116	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1874117	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1874118	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1874122	1.00[EUR][1000 genomes]
rs1874123	1.00[EUR][1000 genomes]
rs1982894	0.95[ASN][1000 genomes]
rs1982895	0.95[ASN][1000 genomes]
rs2067632	0.95[ASN][1000 genomes]
rs2067633	0.95[ASN][1000 genomes]
rs2270534	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2270535	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2275574	0.81[ASN][1000 genomes]
rs28525291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3767324	0.95[ASN][1000 genomes]
rs3795535	0.85[ASN][1000 genomes]
rs3806326	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3806328	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3820350	0.81[ASN][1000 genomes]
rs3820353	0.81[ASN][1000 genomes]
rs3820357	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3902885	0.97[ASN][1000 genomes]
rs4124596	0.97[ASN][1000 genomes]
rs419746	0.81[ASN][1000 genomes]
rs4480363	0.95[ASN][1000 genomes]
rs57187572	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58744613	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58774365	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59611661	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60326124	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6671579	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6687366	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67065803	0.97[ASN][1000 genomes]
rs67358577	0.97[ASN][1000 genomes]
rs67889619	0.82[ASN][1000 genomes]
rs72470443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72470444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72470571	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72470575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72470581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72470584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72470587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72470600	0.82[ASN][1000 genomes]
rs72472389	0.85[ASN][1000 genomes]
rs72472390	0.85[ASN][1000 genomes]
rs72472391	0.85[ASN][1000 genomes]
rs72472392	0.85[ASN][1000 genomes]
rs72472394	0.85[ASN][1000 genomes]
rs72472398	0.95[ASN][1000 genomes]
rs72473905	0.95[ASN][1000 genomes]
rs72473913	0.95[ASN][1000 genomes]
rs746767	1.00[ASN][1000 genomes]
rs953970	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9970128	0.95[ASN][1000 genomes]
rs9970130	0.95[ASN][1000 genomes]
rs9970393	0.95[ASN][1000 genomes]
rs9970394	0.95[ASN][1000 genomes]
rs9970623	0.95[ASN][1000 genomes]

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220959000-220962000	Flanking Active TSS	Adipose Nuclei	Adipose
2	chr1:220959200-220962600	Enhancers	Fetal Brain Male	brain
3	chr1:220959400-220961000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:220959400-220961000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
5	chr1:220959400-220961000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:220959400-220961000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:220959400-220961000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
8	chr1:220959400-220961000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:220959400-220961200	Active TSS	Brain Anterior Caudate	brain
10	chr1:220959400-220961400	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr1:220959400-220961800	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr1:220959600-220961000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr1:220959600-220961000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr1:220959600-220961000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:220959600-220961000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:220959600-220961000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:220959600-220961000	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
18	chr1:220959600-220961000	Active TSS	Aorta	Aorta
19	chr1:220959600-220961000	Flanking Active TSS	Ovary	ovary
20	chr1:220959600-220961200	Active TSS	H9 Cell Line	embryonic stem cell
21	chr1:220959600-220961200	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr1:220959600-220961200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:220959600-220961200	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr1:220959600-220961400	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr1:220959600-220961400	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr1:220959600-220961400	Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr1:220959600-220961400	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr1:220959600-220961400	Active TSS	Brain Angular Gyrus	brain
29	chr1:220959600-220961400	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr1:220959600-220961600	Active TSS	HepG2	liver
31	chr1:220959600-220961800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:220959800-220961000	Active TSS	Brain Cingulate Gyrus	brain
33	chr1:220959800-220961000	Active TSS	Brain Substantia Nigra	brain
34	chr1:220959800-220961000	Active TSS	Fetal Kidney	kidney
35	chr1:220959800-220961000	Active TSS	Gastric	stomach
36	chr1:220959800-220961000	Active TSS	Pancreas	Pancrea
37	chr1:220959800-220961000	Active TSS	Right Atrium	heart
38	chr1:220959800-220961000	Active TSS	Right Ventricle	heart
39	chr1:220959800-220961000	Flanking Active TSS	Osteobl	bone
40	chr1:220959800-220961200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:220959800-220961600	Active TSS	Brain Germinal Matrix	brain
42	chr1:220959800-220961600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr1:220959800-220961800	Active TSS	Rectal Smooth Muscle	rectum
44	chr1:220960000-220961000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:220960000-220961000	Active TSS	Fetal Intestine Small	intestine
46	chr1:220960000-220961000	Bivalent/Poised TSS	NHEK	skin
47	chr1:220960000-220961000	Active TSS	NHLF	lung
48	chr1:220960000-220961400	Active TSS	H1 Cell Line	embryonic stem cell
49	chr1:220960000-220961600	Active TSS	Fetal Brain Female	brain
50	chr1:220960000-220961600	Active TSS	Rectal Mucosa Donor 29	rectum

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