Variant report

Variant	rs72725268
Chromosome Location	chr1:172418805-172418806
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	YY1	chr1:172418609-172419493	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:172418036-172419866	HepG2	liver:	n/a	n/a
3	HEY1	chr1:172418150-172420083	HepG2	liver:	n/a	n/a
4	KAP1	chr1:172418771-172420713	HEK293	kidney:	n/a	chr1:172420445-172420454
5	CREB1	chr1:172418049-172420111	HepG2	liver:	n/a	n/a
6	HEY1	chr1:172418269-172419436	HepG2	liver:	n/a	n/a
7	POLR2A	chr1:172418326-172419862	HepG2	liver:	n/a	n/a
8	POLR2A	chr1:172418279-172420393	HepG2	liver:	n/a	n/a
9	ZEB1	chr1:172417854-172420270	HepG2	liver:	n/a	chr1:172418210-172418221 chr1:172418038-172418049 chr1:172418471-172418479 chr1:172419031-172419038
10	CREB1	chr1:172418701-172419409	A549	lung:	n/a	n/a
11	RAD21	chr1:172418690-172419675	A549	lung:	n/a	chr1:172419230-172419249 chr1:172419232-172419239
12	HNF4G	chr1:172418243-172418891	HepG2	liver:	n/a	chr1:172418769-172418777 chr1:172418505-172418517 chr1:172418505-172418518 chr1:172418504-172418518 chr1:172418504-172418517
13	SMC3	chr1:172418328-172419761	SK-N-SH	brain:	n/a	chr1:172419231-172419245
14	POLR2A	chr1:172418315-172420143	HL-60	blood:	n/a	n/a
15	MAX	chr1:172418247-172420387	HepG2	liver:	n/a	n/a
16	NR2F2	chr1:172417948-172418840	MCF-7	breast:	n/a	n/a
17	CTCF	chr1:172418684-172419707	SK-N-SH	brain:	n/a	chr1:172419229-172419247 chr1:172419234-172419242 chr1:172419231-172419252
18	CTCF	chr1:172418680-172418830	HEEpiC	esophagus:	n/a	n/a
19	POLR2A	chr1:172418157-172420104	HepG2	liver:	n/a	n/a
20	RFX5	chr1:172418158-172419608	HepG2	liver:	n/a	n/a
21	CTCF	chr1:172417456-172420817	A549	lung:	n/a	chr1:172419229-172419247 chr1:172420251-172420259 chr1:172419777-172419790 chr1:172419234-172419242 chr1:172419231-172419252
22	TCF7L2	chr1:172418154-172418900	MCF-7	breast:	n/a	chr1:172418405-172418414 chr1:172418727-172418736 chr1:172418724-172418740 chr1:172418725-172418739
23	EP300	chr1:172418201-172419442	HepG2	liver:	n/a	chr1:172418560-172418569 chr1:172419026-172419042
24	CTCF	chr1:172418720-172418870	HRPEpiC	eye:	n/a	n/a
25	YY1	chr1:172418723-172419365	HepG2	liver:	n/a	n/a
26	CTCF	chr1:172418755-172419684	HCT-116	colon:	n/a	chr1:172419229-172419247 chr1:172419234-172419242 chr1:172419231-172419252
27	MYBL2	chr1:172418107-172419993	HepG2	liver:	n/a	n/a
28	NR2F2	chr1:172417790-172418855	MCF-7	breast:	n/a	n/a
29	MYBL2	chr1:172418172-172419894	HepG2	liver:	n/a	n/a
30	FOSL2	chr1:172417950-172419083	A549	lung:	n/a	chr1:172418404-172418414 chr1:172418402-172418413 chr1:172418404-172418414 chr1:172418405-172418413 chr1:172418403-172418415
31	SP1	chr1:172417976-172418811	A549	lung:	n/a	n/a
32	JUND	chr1:172418245-172419711	K562	blood:	n/a	chr1:172418404-172418414 chr1:172418403-172418414 chr1:172418404-172418414 chr1:172418405-172418413 chr1:172418403-172418415
33	ZNF143	chr1:172418723-172418807	K562	blood:	n/a	n/a
34	TBL1XR1	chr1:172418793-172419645	K562	blood:	n/a	n/a
35	GATA3	chr1:172417920-172420674	MCF-7	breast:	n/a	chr1:172418403-172418412 chr1:172420461-172420468 chr1:172420461-172420468 chr1:172420459-172420469 chr1:172420461-172420468 chr1:172418190-172418211 chr1:172420461-172420471 chr1:172420223-172420232
36	SP1	chr1:172418109-172419437	A549	lung:	n/a	chr1:172418920-172418934 chr1:172418939-172418953
37	YY1	chr1:172418762-172419544	H1-hESC	embryonic stem cell:	n/a	n/a
38	TCF7L2	chr1:172417976-172420696	Hela-S3	cervix:	n/a	chr1:172418405-172418414 chr1:172418727-172418736 chr1:172420414-172420428 chr1:172420417-172420426 chr1:172420413-172420429 chr1:172420416-172420425 chr1:172418724-172418740 chr1:172418725-172418739 chr1:172420413-172420429
39	MAX	chr1:172418231-172420178	HepG2	liver:	n/a	n/a
40	POLR2A	chr1:172418185-172419949	HepG2	liver:	n/a	n/a
41	TCF12	chr1:172417909-172420747	A549	lung:	n/a	chr1:172419611-172419618 chr1:172419480-172419490
42	POLR2A	chr1:172418384-172420817	PBDE	blood:	n/a	n/a
43	SMC3	chr1:172418051-172419733	HepG2	liver:	n/a	chr1:172419231-172419245
44	POLR2A	chr1:172418071-172420575	HepG2	liver:	n/a	n/a
45	SPI1	chr1:172418324-172419474	HL-60	blood:	n/a	chr1:172418561-172418568 chr1:172418560-172418569 chr1:172418558-172418571
46	GATA3	chr1:172418067-172419307	MCF-7	breast:	n/a	chr1:172418403-172418412 chr1:172418190-172418211
47	RCOR1	chr1:172418259-172420675	IMR90	lung:	n/a	n/a
48	BHLHE40	chr1:172418211-172420075	HepG2	liver:	n/a	n/a
49	TEAD4	chr1:172418046-172418882	HepG2	liver:	n/a	chr1:172418227-172418236
50	MBD4	chr1:172418165-172419388	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:172406592..172408826-chr1:172417525..172419582,2	K562	blood:
2	chr1:172418092..172419733-chr1:172445872..172448682,2	MCF-7	breast:
3	chr1:172416555..172419141-chr1:172466431..172468171,3	MCF-7	breast:
4	chr1:172418197..172419975-chr1:172480214..172481768,2	MCF-7	breast:
5	chr1:172416845..172420491-chr1:172421660..172424212,3	MCF-7	breast:
6	chr1:172418751..172419643-chr1:172696748..172697418,2	MCF-7	breast:
7	chr1:172418550..172419714-chr1:172502016..172503069,7	MCF-7	breast:
8	chr1:172418801..172419669-chr1:172502176..172502929,3	MCF-7	breast:
9	chr1:172417311..172418961-chr1:172442502..172444312,2	MCF-7	breast:
10	chr1:172416738..172419262-chr1:172481149..172482659,2	MCF-7	breast:
11	chr1:172411084..172422561-chr1:172496524..172504623,44	MCF-7	breast:
12	chr1:172418505..172419330-chr1:172551492..172552290,2	MCF-7	breast:
13	chr1:172418751..172419678-chr1:172500342..172501547,4	MCF-7	breast:
14	chr1:172417113..172418877-chr1:172464746..172466370,2	MCF-7	breast:
15	chr1:172418589..172419710-chr1:172688502..172689393,4	MCF-7	breast:
16	chr1:172327243..172328745-chr1:172418219..172419831,2	MCF-7	breast:
17	chr1:172412087..172424934-chr1:172497120..172505334,59	MCF-7	breast:
18	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

rs_ID	r²[population]
rs2901654	0.83[EUR][1000 genomes]
rs72723302	0.83[EUR][1000 genomes]
rs72725208	0.83[EUR][1000 genomes]
rs72725210	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72725271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72725272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72725279	0.95[AMR][1000 genomes]

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172413600-172419000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:172413600-172419000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr1:172413600-172419000	Weak transcription	Fetal Thymus	thymus
4	chr1:172413600-172419000	Weak transcription	Right Ventricle	heart
5	chr1:172413600-172419200	Weak transcription	Fetal Heart	heart
6	chr1:172413600-172421800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:172413600-172421800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:172413800-172419000	Weak transcription	Primary B cells from peripheral blood	blood
9	chr1:172413800-172419000	Weak transcription	Primary T cells from cord blood	blood
10	chr1:172413800-172419000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:172413800-172419000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr1:172413800-172419000	Weak transcription	Liver	Liver
13	chr1:172413800-172419000	Weak transcription	Brain Anterior Caudate	brain
14	chr1:172413800-172419000	Weak transcription	Brain Hippocampus Middle	brain
15	chr1:172413800-172419000	Weak transcription	Brain Substantia Nigra	brain
16	chr1:172413800-172419000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr1:172413800-172419400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr1:172413800-172419400	Weak transcription	NHDF-Ad	bronchial
19	chr1:172414000-172419000	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr1:172414400-172419200	Weak transcription	Dnd41	blood
21	chr1:172415400-172420000	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr1:172415400-172420400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:172416000-172419000	Weak transcription	Pancreas	Pancrea
24	chr1:172416200-172419000	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr1:172416400-172419800	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr1:172416400-172419800	Enhancers	Fetal Intestine Small	intestine
27	chr1:172416400-172420000	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr1:172416400-172420600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:172416400-172420600	Enhancers	HMEC	breast
30	chr1:172416600-172419400	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr1:172417000-172419200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:172417200-172419000	Weak transcription	Adipose Nuclei	Adipose
33	chr1:172417200-172419000	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr1:172417200-172420600	Enhancers	NHEK	skin
35	chr1:172417200-172421800	Weak transcription	Psoas Muscle	Psoas
36	chr1:172417200-172423200	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr1:172417400-172419000	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr1:172417400-172419400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:172417600-172420800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:172417800-172419000	Flanking Active TSS	Hela-S3	cervix
41	chr1:172417800-172419200	Enhancers	Duodenum Mucosa	Duodenum
42	chr1:172417800-172420600	Enhancers	Placenta	Placenta
43	chr1:172417800-172420600	Enhancers	Placenta Amnion	Placenta Amnion
44	chr1:172417800-172420800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr1:172417800-172420800	Enhancers	Fetal Kidney	kidney
46	chr1:172418000-172420200	Flanking Active TSS	A549	lung
47	chr1:172418000-172420400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr1:172418000-172420400	Enhancers	Stomach Mucosa	stomach
49	chr1:172418000-172420800	Enhancers	HUVEC	blood vessel
50	chr1:172418000-172422200	Enhancers	NH-A	brain

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