Variant report

Variant	rs74126223
Chromosome Location	chr1:172419584-172419585
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	ARID3A	chr1:172418036-172419866	HepG2	liver:	n/a	n/a
2	GATA3	chr1:172419512-172420777	MCF-7	breast:	n/a	chr1:172420461-172420468 chr1:172420461-172420468 chr1:172420459-172420469 chr1:172420461-172420468 chr1:172420461-172420471 chr1:172420223-172420232
3	MBD4	chr1:172418944-172419693	HepG2	liver:	n/a	n/a
4	CTCF	chr1:172419540-172419690	GM12872	blood:	n/a	n/a
5	HEY1	chr1:172418150-172420083	HepG2	liver:	n/a	n/a
6	POLR2A	chr1:172418822-172419602	HL-60	blood:	n/a	n/a
7	KAP1	chr1:172418771-172420713	HEK293	kidney:	n/a	chr1:172420445-172420454
8	CREB1	chr1:172418049-172420111	HepG2	liver:	n/a	n/a
9	NR2F2	chr1:172418858-172420695	K562	blood:	n/a	n/a
10	POLR2A	chr1:172418326-172419862	HepG2	liver:	n/a	n/a
11	NR2F2	chr1:172419016-172419992	K562	blood:	n/a	n/a
12	CTCF	chr1:172419560-172419710	HCPEpiC	choroid plexus:	n/a	n/a
13	CTCF	chr1:172418998-172419587	K562	blood:	n/a	chr1:172419229-172419247 chr1:172419234-172419242 chr1:172419231-172419252
14	POLR2A	chr1:172418279-172420393	HepG2	liver:	n/a	n/a
15	ZEB1	chr1:172417854-172420270	HepG2	liver:	n/a	chr1:172418210-172418221 chr1:172418038-172418049 chr1:172418471-172418479 chr1:172419031-172419038
16	RAD21	chr1:172418690-172419675	A549	lung:	n/a	chr1:172419230-172419249 chr1:172419232-172419239
17	RAD21	chr1:172418928-172419616	ECC-1	luminal epithelium:	n/a	chr1:172419230-172419249 chr1:172419232-172419239
18	MXI1	chr1:172418847-172420065	HepG2	liver:	n/a	n/a
19	SMC3	chr1:172418328-172419761	SK-N-SH	brain:	n/a	chr1:172419231-172419245
20	POLR2A	chr1:172418315-172420143	HL-60	blood:	n/a	n/a
21	CHD2	chr1:172418807-172419616	K562	blood:	n/a	n/a
22	CTCF	chr1:172419440-172419590	AG04449	skin:	n/a	n/a
23	MAX	chr1:172418247-172420387	HepG2	liver:	n/a	n/a
24	CTCF	chr1:172418684-172419707	SK-N-SH	brain:	n/a	chr1:172419229-172419247 chr1:172419234-172419242 chr1:172419231-172419252
25	POLR2A	chr1:172418157-172420104	HepG2	liver:	n/a	n/a
26	MAZ	chr1:172418831-172420595	HepG2	liver:	n/a	chr1:172420446-172420455
27	TEAD4	chr1:172419182-172420120	HepG2	liver:	n/a	n/a
28	NR2F2	chr1:172419483-172420685	MCF-7	breast:	n/a	n/a
29	RFX5	chr1:172418158-172419608	HepG2	liver:	n/a	n/a
30	CBX3	chr1:172418843-172419702	K562	blood:	n/a	n/a
31	MYC	chr1:172419067-172419596	K562	blood:	n/a	n/a
32	CTCF	chr1:172417456-172420817	A549	lung:	n/a	chr1:172419229-172419247 chr1:172420251-172420259 chr1:172419777-172419790 chr1:172419234-172419242 chr1:172419231-172419252
33	RCOR1	chr1:172419030-172420642	K562	blood:	n/a	n/a
34	RAD21	chr1:172418820-172419603	HCT-116	colon:	n/a	chr1:172419230-172419249 chr1:172419232-172419239
35	MAX	chr1:172418995-172420243	A549	lung:	n/a	n/a
36	MAX	chr1:172418918-172420046	HepG2	liver:	n/a	n/a
37	HEY1	chr1:172419558-172420001	HepG2	liver:	n/a	n/a
38	CTCF	chr1:172418755-172419684	HCT-116	colon:	n/a	chr1:172419229-172419247 chr1:172419234-172419242 chr1:172419231-172419252
39	CTCF	chr1:172419560-172419710	HBMEC	blood vessel:	n/a	n/a
40	MYBL2	chr1:172418107-172419993	HepG2	liver:	n/a	n/a
41	MAX	chr1:172418976-172420383	MCF-7	breast:	n/a	n/a
42	NFIC	chr1:172419028-172419751	HepG2	liver:	n/a	n/a
43	MYBL2	chr1:172418172-172419894	HepG2	liver:	n/a	n/a
44	ZC3H11A	chr1:172419035-172419899	K562	blood:	n/a	n/a
45	ZNF143	chr1:172419013-172419628	K562	blood:	n/a	n/a
46	ELK1	chr1:172418966-172419631	K562	blood:	n/a	n/a
47	RAD21	chr1:172418821-172419685	SK-N-SH	brain:	n/a	chr1:172419230-172419249 chr1:172419232-172419239
48	JUND	chr1:172418245-172419711	K562	blood:	n/a	chr1:172418404-172418414 chr1:172418403-172418414 chr1:172418404-172418414 chr1:172418405-172418413 chr1:172418403-172418415
49	TBL1XR1	chr1:172418793-172419645	K562	blood:	n/a	n/a
50	TCF7L2	chr1:172419268-172421000	HEK293	kidney:	n/a	chr1:172420414-172420428 chr1:172420417-172420426 chr1:172420413-172420429 chr1:172420416-172420425 chr1:172420413-172420429

No.	Distal block	Cell Line	Cell type
1	chr1:172418092..172419733-chr1:172445872..172448682,2	MCF-7	breast:
2	chr1:172419256..172421468-chr1:172500783..172504604,4	K562	blood:
3	chr1:172418197..172419975-chr1:172480214..172481768,2	MCF-7	breast:
4	chr1:172416845..172420491-chr1:172421660..172424212,3	MCF-7	breast:
5	chr1:172398325..172399061-chr1:172419028..172419711,2	MCF-7	breast:
6	chr1:172419133..172419664-chr1:172696878..172697829,2	K562	blood:
7	chr1:172418751..172419643-chr1:172696748..172697418,2	MCF-7	breast:
8	chr1:172418550..172419714-chr1:172502016..172503069,7	MCF-7	breast:
9	chr1:172419156..172419700-chr1:172503275..172503932,2	MCF-7	breast:
10	chr1:172418801..172419669-chr1:172502176..172502929,3	MCF-7	breast:
11	chr1:172411084..172422561-chr1:172496524..172504623,44	MCF-7	breast:
12	chr1:172418751..172419678-chr1:172500342..172501547,4	MCF-7	breast:
13	chr1:172418589..172419710-chr1:172688502..172689393,4	MCF-7	breast:
14	chr1:172327243..172328745-chr1:172418219..172419831,2	MCF-7	breast:
15	chr1:172412087..172424934-chr1:172497120..172505334,59	MCF-7	breast:
16	chr1:172418803..172419732-chr1:172578542..172579221,4	MCF-7	breast:

Variant related genes	Relation type
C1orf105	TF binding region
ENSG00000180999	Chromatin interaction
ENSG00000094975	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10489282	0.86[EUR][1000 genomes]
rs16844474	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs41263736	0.86[EUR][1000 genomes]
rs56212963	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs74126219	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs74126220	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs743948	0.91[AFR][1000 genomes]

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172413600-172421800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:172413600-172421800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:172415400-172420000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr1:172415400-172420400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:172416400-172419800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr1:172416400-172419800	Enhancers	Fetal Intestine Small	intestine
7	chr1:172416400-172420000	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr1:172416400-172420600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:172416400-172420600	Enhancers	HMEC	breast
10	chr1:172417200-172420600	Enhancers	NHEK	skin
11	chr1:172417200-172421800	Weak transcription	Psoas Muscle	Psoas
12	chr1:172417200-172423200	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr1:172417600-172420800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:172417800-172420600	Enhancers	Placenta	Placenta
15	chr1:172417800-172420600	Enhancers	Placenta Amnion	Placenta Amnion
16	chr1:172417800-172420800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:172417800-172420800	Enhancers	Fetal Kidney	kidney
18	chr1:172418000-172420200	Flanking Active TSS	A549	lung
19	chr1:172418000-172420400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:172418000-172420400	Enhancers	Stomach Mucosa	stomach
21	chr1:172418000-172420800	Enhancers	HUVEC	blood vessel
22	chr1:172418000-172422200	Enhancers	NH-A	brain
23	chr1:172418400-172420400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:172418400-172420600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr1:172418600-172419600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:172418600-172419800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:172418600-172420200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr1:172418600-172420400	Enhancers	Esophagus	oesophagus
29	chr1:172418800-172420000	Enhancers	Fetal Muscle Trunk	muscle
30	chr1:172418800-172420000	Enhancers	Lung	lung
31	chr1:172418800-172420200	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr1:172418800-172420400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:172418800-172420400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr1:172418800-172420400	Enhancers	Left Ventricle	heart
35	chr1:172418800-172420600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr1:172419000-172419600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr1:172419000-172419600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr1:172419000-172419600	Enhancers	Primary B cells from peripheral blood	blood
39	chr1:172419000-172419600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr1:172419000-172419600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:172419000-172419600	Enhancers	Brain Hippocampus Middle	brain
42	chr1:172419000-172419600	Enhancers	Right Ventricle	heart
43	chr1:172419000-172419600	Active TSS	Stomach Smooth Muscle	stomach
44	chr1:172419000-172419600	Weak transcription	HSMMtube	muscle
45	chr1:172419000-172419800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
46	chr1:172419000-172419800	Enhancers	Fetal Thymus	thymus
47	chr1:172419000-172419800	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr1:172419000-172420000	Enhancers	Brain Anterior Caudate	brain
49	chr1:172419000-172420000	Enhancers	Ovary	ovary
50	chr1:172419000-172420000	Enhancers	Hela-S3	cervix

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