Variant report

Variant	rs702721
Chromosome Location	chr5:57756689-57756690
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	MAX	chr5:57755462-57757152	HCT-116	colon:	n/a	chr5:57756022-57756031
2	POLR2A	chr5:57756610-57756792	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr5:57756621-57756891	GM10266	blood:	n/a	chr5:57756739-57756755 chr5:57756740-57756753 chr5:57756738-57756756 chr5:57756733-57756754
4	MAX	chr5:57755455-57756969	HepG2	liver:	n/a	chr5:57756022-57756031
5	RAD21	chr5:57754174-57757575	SK-N-SH	brain:	n/a	chr5:57755497-57755509 chr5:57756736-57756755 chr5:57755955-57755967 chr5:57755364-57755374 chr5:57756324-57756337 chr5:57756780-57756792 chr5:57756742-57756751
6	POLR2A	chr5:57755502-57756815	GM18526	blood:	n/a	n/a
7	CTCF	chr5:57756581-57756911	A549	lung:	n/a	chr5:57756739-57756755 chr5:57756740-57756753 chr5:57756738-57756756 chr5:57756733-57756754
8	CTCF	chr5:57756680-57756830	HRPEpiC	eye:	n/a	chr5:57756739-57756755 chr5:57756740-57756753 chr5:57756738-57756756 chr5:57756733-57756754
9	SMC3	chr5:57756538-57756919	K562	blood:	n/a	chr5:57756740-57756754
10	CTCF	chr5:57756624-57756865	SK-N-SH_RA	brain:	n/a	chr5:57756739-57756755 chr5:57756740-57756753 chr5:57756738-57756756 chr5:57756733-57756754
11	MXI1	chr5:57755749-57757017	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr5:57756640-57756790	GM12864	blood:	n/a	chr5:57756739-57756755 chr5:57756740-57756753 chr5:57756738-57756756 chr5:57756733-57756754
13	RAD21	chr5:57754101-57757035	IMR90	lung:	n/a	chr5:57755497-57755509 chr5:57756736-57756755 chr5:57755955-57755967 chr5:57755364-57755374 chr5:57756324-57756337 chr5:57756780-57756792 chr5:57756742-57756751
14	RAD21	chr5:57755686-57757046	Hela-S3	cervix:	n/a	chr5:57756736-57756755 chr5:57755955-57755967 chr5:57756324-57756337 chr5:57756780-57756792 chr5:57756742-57756751
15	CTCF	chr5:57756680-57756830	GM12866	blood:	n/a	chr5:57756739-57756755 chr5:57756740-57756753 chr5:57756738-57756756 chr5:57756733-57756754
16	CTCF	chr5:57756583-57756912	GM19240	blood:	n/a	chr5:57756739-57756755 chr5:57756740-57756753 chr5:57756738-57756756 chr5:57756733-57756754
17	MYBL2	chr5:57756445-57756930	HepG2	liver:	n/a	n/a
18	CTCF	chr5:57756564-57756831	A549	lung:	n/a	chr5:57756739-57756755 chr5:57756740-57756753 chr5:57756738-57756756 chr5:57756733-57756754
19	RAD21	chr5:57755489-57757166	HCT-116	colon:	n/a	chr5:57755497-57755509 chr5:57756736-57756755 chr5:57755955-57755967 chr5:57756324-57756337 chr5:57756780-57756792 chr5:57756742-57756751
20	RAD21	chr5:57754889-57756996	SK-N-SH_RA	brain:	n/a	chr5:57755497-57755509 chr5:57756736-57756755 chr5:57755955-57755967 chr5:57755364-57755374 chr5:57756324-57756337 chr5:57756780-57756792 chr5:57756742-57756751
21	POLR2A	chr5:57755230-57756816	A549	lung:	n/a	n/a
22	RXRA	chr5:57756551-57756747	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr5:57756680-57756830	K562	blood:	n/a	chr5:57756739-57756755 chr5:57756740-57756753 chr5:57756738-57756756 chr5:57756733-57756754
24	CTCF	chr5:57756660-57756810	GM12871	blood:	n/a	chr5:57756739-57756755 chr5:57756740-57756753 chr5:57756738-57756756 chr5:57756733-57756754
25	POLR2A	chr5:57745705-57757136	HUVEC	blood vessel:	n/a	n/a
26	CHD2	chr5:57754650-57756867	Hela-S3	cervix:	n/a	n/a
27	MAX	chr5:57755452-57757190	ECC-1	luminal epithelium:	n/a	chr5:57756022-57756031
28	YY1	chr5:57756596-57756837	HCT-116	colon:	n/a	chr5:57756739-57756761 chr5:57756742-57756750 chr5:57756738-57756750
29	CTCF	chr5:57755720-57757022	IMR90	lung:	n/a	chr5:57756239-57756248 chr5:57756739-57756755 chr5:57756740-57756753 chr5:57756238-57756251 chr5:57756235-57756248 chr5:57756738-57756756 chr5:57756733-57756754
30	RAD21	chr5:57756512-57757007	GM12878	blood:	n/a	chr5:57756736-57756755 chr5:57756780-57756792 chr5:57756742-57756751
31	EP300	chr5:57754512-57757000	A549	lung:	n/a	chr5:57756094-57756103
32	CTCF	chr5:57756640-57756790	NHEK	skin:	n/a	chr5:57756739-57756755 chr5:57756740-57756753 chr5:57756738-57756756 chr5:57756733-57756754
33	E2F4	chr5:57755741-57756716	MCF10A-Er-Src	breast:	n/a	chr5:57755947-57755959 chr5:57756117-57756129 chr5:57756045-57756057
34	POLR2A	chr5:57755671-57756895	GM19099	blood:	n/a	n/a
35	FOS	chr5:57756678-57756853	MCF10A-Er-Src	breast:	n/a	n/a
36	CTCF	chr5:57756660-57756810	HA-sp	spinal cord:	n/a	chr5:57756739-57756755 chr5:57756740-57756753 chr5:57756738-57756756 chr5:57756733-57756754
37	PBX3	chr5:57755580-57756983	SK-N-SH	brain:	n/a	chr5:57756617-57756637
38	NFIC	chr5:57755422-57756892	ECC-1	luminal epithelium:	n/a	n/a
39	ZNF143	chr5:57755248-57757041	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr5:57754179-57756864	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr5:57746016-57757149	HUVEC	blood vessel:	n/a	n/a
42	ATF2	chr5:57756494-57756927	H1-hESC	embryonic stem cell:	n/a	n/a
43	RAD21	chr5:57755132-57757160	MCF-7	breast:	n/a	chr5:57755497-57755509 chr5:57756736-57756755 chr5:57755955-57755967 chr5:57755364-57755374 chr5:57756324-57756337 chr5:57756780-57756792 chr5:57756742-57756751
44	RAD21	chr5:57754545-57757114	HCT-116	colon:	n/a	chr5:57755497-57755509 chr5:57756736-57756755 chr5:57755955-57755967 chr5:57755364-57755374 chr5:57756324-57756337 chr5:57756780-57756792 chr5:57756742-57756751
45	YY1	chr5:57756508-57756904	H1-hESC	embryonic stem cell:	n/a	chr5:57756739-57756761 chr5:57756742-57756750 chr5:57756738-57756750
46	GATA3	chr5:57756531-57756943	T-47D	breast:	n/a	n/a
47	CTCF	chr5:57756680-57756830	GM12871	blood:	n/a	chr5:57756739-57756755 chr5:57756740-57756753 chr5:57756738-57756756 chr5:57756733-57756754
48	SP1	chr5:57755470-57757092	A549	lung:	n/a	chr5:57755998-57756010 chr5:57755999-57756008 chr5:57756227-57756236 chr5:57755957-57755968 chr5:57756000-57756009 chr5:57755954-57755968 chr5:57755958-57755967 chr5:57756622-57756631 chr5:57755999-57756008 chr5:57756226-57756235 chr5:57755998-57756010 chr5:57755999-57756009 chr5:57756620-57756632 chr5:57755957-57755969 chr5:57756621-57756630 chr5:57755946-57755957
49	E2F6	chr5:57756504-57756961	A549	lung:	n/a	n/a
50	GTF2F1	chr5:57756579-57756754	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:57068006..57070437-chr5:57756613..57758535,2	MCF-7	breast:
2	chr17:56707798..56710603-chr5:57755406..57757452,2	MCF-7	breast:
3	chr17:57923573..57925801-chr5:57753845..57756826,2	MCF-7	breast:
4	chr5:57364074..57376813-chr5:57753679..57758569,26	MCF-7	breast:
5	chr5:57168184..57169711-chr5:57754494..57756798,2	MCF-7	breast:
6	chr5:56946261..56947053-chr5:57756221..57757048,2	K562	blood:
7	chr5:57183468..57184088-chr5:57756668..57757203,2	MCF-7	breast:
8	chr1:11968161..11969978-chr5:57755723..57757847,2	MCF-7	breast:
9	chr5:57754652..57757569-chr8:146051207..146054086,2	MCF-7	breast:

Variant related genes	Relation type
PLK2	TF binding region
ENSG00000201524	Chromatin interaction
ENSG00000266864	Chromatin interaction
ENSG00000238899	Chromatin interaction
ENSG00000199347	Chromatin interaction
ENSG00000147789	Chromatin interaction
ENSG00000212195	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs150271	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs154492	0.94[ASN][1000 genomes]
rs32613	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39967	1.00[ASN][1000 genomes]
rs41088	1.00[ASN][1000 genomes]
rs42740	1.00[ASN][1000 genomes]
rs697134	1.00[ASN][1000 genomes]
rs702709	0.97[ASN][1000 genomes]
rs702710	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs702717	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs702720	1.00[ASN][1000 genomes]
rs832631	0.97[ASN][1000 genomes]
rs832636	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3332078	chr5:57754795-57756793	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
2	esv3437453	chr5:57755020-57757568	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57750000-57756800	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr5:57750800-57756800	Active TSS	Right Atrium	heart
3	chr5:57751000-57756800	Active TSS	Brain Angular Gyrus	brain
4	chr5:57751600-57756800	Active TSS	Rectal Smooth Muscle	rectum
5	chr5:57751600-57756800	Active TSS	Right Ventricle	heart
6	chr5:57751600-57757000	Active TSS	Brain Hippocampus Middle	brain
7	chr5:57751800-57756800	Active TSS	Brain Cingulate Gyrus	brain
8	chr5:57752200-57756800	Active TSS	Fetal Stomach	stomach
9	chr5:57752200-57756800	Active TSS	Lung	lung
10	chr5:57752200-57756800	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr5:57753000-57756800	Active TSS	Esophagus	oesophagus
12	chr5:57753400-57756800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr5:57753400-57756800	Active TSS	Psoas Muscle	Psoas
14	chr5:57753600-57756800	Active TSS	Rectal Mucosa Donor 31	rectum
15	chr5:57753600-57756800	Active TSS	NHDF-Ad	bronchial
16	chr5:57753600-57757000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr5:57753800-57756800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr5:57753800-57756800	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr5:57754000-57756800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr5:57754200-57756800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr5:57754200-57756800	Active TSS	H9 Cell Line	embryonic stem cell
22	chr5:57754200-57756800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:57754200-57756800	Active TSS	Colon Smooth Muscle	Colon
24	chr5:57754200-57757000	Active TSS	Pancreas	Pancrea
25	chr5:57754400-57756800	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr5:57754400-57756800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr5:57754400-57756800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:57754400-57756800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr5:57754400-57756800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr5:57754400-57756800	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr5:57754400-57756800	Active TSS	Fetal Muscle Leg	muscle
32	chr5:57754400-57756800	Active TSS	Left Ventricle	heart
33	chr5:57754400-57756800	Active TSS	Ovary	ovary
34	chr5:57754400-57756800	Active TSS	Sigmoid Colon	Sigmoid Colon
35	chr5:57754400-57756800	Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr5:57754400-57756800	Active TSS	Small Intestine	intestine
37	chr5:57754400-57757000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr5:57754400-57757000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr5:57754600-57756800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr5:57754600-57756800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr5:57754600-57756800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr5:57754600-57756800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr5:57754600-57756800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr5:57754600-57756800	Active TSS	Spleen	Spleen
45	chr5:57754600-57756800	Active TSS	Hela-S3	cervix
46	chr5:57754600-57756800	Active TSS	NHEK	skin
47	chr5:57754600-57757000	Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr5:57754800-57756800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr5:57754800-57756800	Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr5:57754800-57756800	Active TSS	Muscle Satellite Cultured Cells	--

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