Variant report

Variant	rs7544376
Chromosome Location	chr1:172419095-172419096
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	YY1	chr1:172418609-172419493	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:172418036-172419866	HepG2	liver:	n/a	n/a
3	TCF12	chr1:172419041-172419325	H1-hESC	embryonic stem cell:	n/a	n/a
4	MBD4	chr1:172418944-172419693	HepG2	liver:	n/a	n/a
5	RAD21	chr1:172419042-172419448	K562	blood:	n/a	chr1:172419230-172419249 chr1:172419232-172419239
6	HEY1	chr1:172418150-172420083	HepG2	liver:	n/a	n/a
7	ZMIZ1	chr1:172418948-172419387	K562	blood:	n/a	n/a
8	POLR2A	chr1:172418822-172419602	HL-60	blood:	n/a	n/a
9	CTCF	chr1:172419086-172419348	MCF-7	breast:	n/a	chr1:172419229-172419247 chr1:172419234-172419242 chr1:172419231-172419252
10	EBF1	chr1:172419088-172419380	GM12878	blood:	n/a	chr1:172419280-172419291
11	USF2	chr1:172419017-172419209	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr1:172418962-172419423	K562	blood:	n/a	chr1:172419229-172419247 chr1:172419234-172419242 chr1:172419231-172419252
13	KAP1	chr1:172418771-172420713	HEK293	kidney:	n/a	chr1:172420445-172420454
14	CREB1	chr1:172418049-172420111	HepG2	liver:	n/a	n/a
15	NR2F2	chr1:172418858-172420695	K562	blood:	n/a	n/a
16	HEY1	chr1:172418269-172419436	HepG2	liver:	n/a	n/a
17	POLR2A	chr1:172418326-172419862	HepG2	liver:	n/a	n/a
18	CTCF	chr1:172419028-172419456	GM12878	blood:	n/a	chr1:172419229-172419247 chr1:172419234-172419242 chr1:172419231-172419252
19	RAD21	chr1:172419093-172419312	K562	blood:	n/a	chr1:172419230-172419249 chr1:172419232-172419239
20	NR2F2	chr1:172419016-172419992	K562	blood:	n/a	n/a
21	CTCF	chr1:172419085-172419367	MCF-7	breast:	n/a	chr1:172419229-172419247 chr1:172419234-172419242 chr1:172419231-172419252
22	CTCF	chr1:172419089-172419392	GM19238	blood:	n/a	chr1:172419229-172419247 chr1:172419234-172419242 chr1:172419231-172419252
23	CTCF	chr1:172419076-172419371	MCF-7	breast:	n/a	chr1:172419229-172419247 chr1:172419234-172419242 chr1:172419231-172419252
24	HDAC2	chr1:172419000-172419329	HepG2	liver:	n/a	n/a
25	RCOR1	chr1:172419062-172419368	K562	blood:	n/a	n/a
26	MAZ	chr1:172418875-172419582	K562	blood:	n/a	n/a
27	CUX1	chr1:172419059-172419482	K562	blood:	n/a	n/a
28	CTCF	chr1:172418998-172419587	K562	blood:	n/a	chr1:172419229-172419247 chr1:172419234-172419242 chr1:172419231-172419252
29	POLR2A	chr1:172418279-172420393	HepG2	liver:	n/a	n/a
30	CTCF	chr1:172419091-172419377	K562	blood:	n/a	chr1:172419229-172419247 chr1:172419234-172419242 chr1:172419231-172419252
31	REST	chr1:172418856-172419559	A549	lung:	n/a	chr1:172418875-172418884
32	ZEB1	chr1:172417854-172420270	HepG2	liver:	n/a	chr1:172418210-172418221 chr1:172418038-172418049 chr1:172418471-172418479 chr1:172419031-172419038
33	CREB1	chr1:172418701-172419409	A549	lung:	n/a	n/a
34	ZKSCAN1	chr1:172419046-172419181	Hela-S3	cervix:	n/a	n/a
35	YY1	chr1:172419025-172419390	H1-hESC	embryonic stem cell:	n/a	n/a
36	YY1	chr1:172418812-172419350	K562	blood:	n/a	n/a
37	RAD21	chr1:172418690-172419675	A549	lung:	n/a	chr1:172419230-172419249 chr1:172419232-172419239
38	RUNX3	chr1:172418980-172419445	GM12878	blood:	n/a	chr1:172419198-172419215
39	TBL1XR1	chr1:172419017-172419417	K562	blood:	n/a	n/a
40	RAD21	chr1:172418928-172419616	ECC-1	luminal epithelium:	n/a	chr1:172419230-172419249 chr1:172419232-172419239
41	CTCF	chr1:172419082-172419370	MCF-7	breast:	n/a	chr1:172419229-172419247 chr1:172419234-172419242 chr1:172419231-172419252
42	MAFK	chr1:172418979-172419357	HepG2	liver:	n/a	n/a
43	YY1	chr1:172418976-172419395	A549	lung:	n/a	n/a
44	CTCF	chr1:172419087-172419363	Kidney_OC	kidney:	n/a	chr1:172419229-172419247 chr1:172419234-172419242 chr1:172419231-172419252
45	MXI1	chr1:172418847-172420065	HepG2	liver:	n/a	n/a
46	SMC3	chr1:172418328-172419761	SK-N-SH	brain:	n/a	chr1:172419231-172419245
47	CTCF	chr1:172419081-172419309	ECC-1	luminal epithelium:	n/a	chr1:172419229-172419247 chr1:172419234-172419242 chr1:172419231-172419252
48	CTCF	chr1:172419062-172419399	HepG2	liver:	n/a	chr1:172419229-172419247 chr1:172419234-172419242 chr1:172419231-172419252
49	POLR2A	chr1:172418315-172420143	HL-60	blood:	n/a	n/a
50	CTCF	chr1:172419089-172419359	GM10266	blood:	n/a	chr1:172419229-172419247 chr1:172419234-172419242 chr1:172419231-172419252

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	chr1:172398325..172399061-chr1:172419028..172419711,2	MCF-7	breast:
7	chr1:172418751..172419643-chr1:172696748..172697418,2	MCF-7	breast:
8	chr1:172418550..172419714-chr1:172502016..172503069,7	MCF-7	breast:
9	chr1:172418801..172419669-chr1:172502176..172502929,3	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	chr1:172418589..172419710-chr1:172688502..172689393,4	MCF-7	breast:
15	chr1:172327243..172328745-chr1:172418219..172419831,2	MCF-7	breast:
16	chr1:172412087..172424934-chr1:172497120..172505334,59	MCF-7	breast:
17	chr1:172418803..172419732-chr1:172578542..172579221,4	MCF-7	breast:

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

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1129942	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17369123	0.85[CEU][hapmap]
rs2001130	0.89[EUR][1000 genomes]
rs2001132	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2213738	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs2901655	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3948765	0.89[EUR][1000 genomes]
rs4244193	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4244194	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4916187	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4916260	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4916261	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6660798	0.83[EUR][1000 genomes]
rs6689291	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs739249	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7515895	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7518300	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7522692	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7538417	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9425328	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9425330	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs9425620	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172413600-172419200	Weak transcription	Fetal Heart	heart
2	chr1:172413600-172421800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:172413600-172421800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:172413800-172419400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr1:172413800-172419400	Weak transcription	NHDF-Ad	bronchial
6	chr1:172414400-172419200	Weak transcription	Dnd41	blood
7	chr1:172415400-172420000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr1:172415400-172420400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:172416400-172419800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr1:172416400-172419800	Enhancers	Fetal Intestine Small	intestine
11	chr1:172416400-172420000	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr1:172416400-172420600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:172416400-172420600	Enhancers	HMEC	breast
14	chr1:172416600-172419400	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr1:172417000-172419200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:172417200-172420600	Enhancers	NHEK	skin
17	chr1:172417200-172421800	Weak transcription	Psoas Muscle	Psoas
18	chr1:172417200-172423200	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr1:172417400-172419400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:172417600-172420800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:172417800-172419200	Enhancers	Duodenum Mucosa	Duodenum
22	chr1:172417800-172420600	Enhancers	Placenta	Placenta
23	chr1:172417800-172420600	Enhancers	Placenta Amnion	Placenta Amnion
24	chr1:172417800-172420800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:172417800-172420800	Enhancers	Fetal Kidney	kidney
26	chr1:172418000-172420200	Flanking Active TSS	A549	lung
27	chr1:172418000-172420400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:172418000-172420400	Enhancers	Stomach Mucosa	stomach
29	chr1:172418000-172420800	Enhancers	HUVEC	blood vessel
30	chr1:172418000-172422200	Enhancers	NH-A	brain
31	chr1:172418200-172419200	Enhancers	K562	blood
32	chr1:172418400-172419200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:172418400-172419200	Bivalent/Poised TSS	HepG2	liver
34	chr1:172418400-172420400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:172418400-172420600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr1:172418600-172419200	Enhancers	Fetal Muscle Leg	muscle
37	chr1:172418600-172419600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:172418600-172419800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr1:172418600-172420200	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr1:172418600-172420400	Enhancers	Esophagus	oesophagus
41	chr1:172418800-172419200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:172418800-172419200	Enhancers	Primary B cells from cord blood	blood
43	chr1:172418800-172419200	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr1:172418800-172419200	Enhancers	GM12878-XiMat	blood
45	chr1:172418800-172419400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr1:172418800-172420000	Enhancers	Fetal Muscle Trunk	muscle
47	chr1:172418800-172420000	Enhancers	Lung	lung
48	chr1:172418800-172420200	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr1:172418800-172420400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:172418800-172420400	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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