Variant report

Variant	rs62366396
Chromosome Location	chr5:57758511-57758512
allele	G/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	RAD21	chr5:57758403-57758889	ECC-1	luminal epithelium:	n/a	chr5:57758565-57758579 chr5:57758655-57758674
2	CTCF	chr5:57758427-57758896	A549	lung:	n/a	chr5:57758657-57758675 chr5:57758652-57758673
3	RAD21	chr5:57758104-57758936	HepG2	liver:	n/a	chr5:57758565-57758579 chr5:57758655-57758674
4	YY1	chr5:57758317-57758751	SK-N-SH	brain:	n/a	chr5:57758570-57758580 chr5:57758558-57758580
5	RAD21	chr5:57757993-57758890	Hela-S3	cervix:	n/a	chr5:57758565-57758579 chr5:57758655-57758674
6	MYC	chr5:57758010-57758691	MCF10A-Er-Src	breast:	n/a	n/a
7	RAD21	chr5:57758343-57758982	A549	lung:	n/a	chr5:57758565-57758579 chr5:57758655-57758674
8	FOS	chr5:57757953-57758725	MCF10A-Er-Src	breast:	n/a	chr5:57758705-57758714
9	RAD21	chr5:57758300-57758898	ECC-1	luminal epithelium:	n/a	chr5:57758565-57758579 chr5:57758655-57758674
10	CTCF	chr5:57758413-57758930	MCF-7	breast:	n/a	chr5:57758657-57758675 chr5:57758652-57758673
11	CTCF	chr5:57758500-57758650	A549	lung:	n/a	n/a
12	RAD21	chr5:57758416-57758871	GM12878	blood:	n/a	chr5:57758565-57758579 chr5:57758655-57758674
13	CTCF	chr5:57757571-57759432	A549	lung:	n/a	chr5:57758657-57758675 chr5:57758652-57758673
14	FOS	chr5:57757949-57758620	MCF10A-Er-Src	breast:	n/a	n/a
15	ZNF143	chr5:57758501-57758840	GM12878	blood:	n/a	n/a
16	RAD21	chr5:57758109-57758839	H1-hESC	embryonic stem cell:	n/a	chr5:57758565-57758579 chr5:57758655-57758674
17	MYC	chr5:57758490-57758813	MCF10A-Er-Src	breast:	n/a	n/a
18	CTCF	chr5:57758508-57758838	Spleen_OC	spleen:	n/a	chr5:57758657-57758675 chr5:57758652-57758673
19	CEBPB	chr5:57758017-57758808	Hela-S3	cervix:	n/a	n/a
20	RAD21	chr5:57758289-57758915	HCT-116	colon:	n/a	chr5:57758565-57758579 chr5:57758655-57758674
21	RAD21	chr5:57758468-57758830	A549	lung:	n/a	chr5:57758565-57758579 chr5:57758655-57758674
22	CTCF	chr5:57758415-57758848	HepG2	liver:	n/a	chr5:57758657-57758675 chr5:57758652-57758673
23	RAD21	chr5:57758396-57758912	HCT-116	colon:	n/a	chr5:57758565-57758579 chr5:57758655-57758674
24	TCF12	chr5:57757837-57758770	A549	lung:	n/a	n/a
25	CTCF	chr5:57758475-57758800	ECC-1	luminal epithelium:	n/a	chr5:57758657-57758675 chr5:57758652-57758673
26	RAD21	chr5:57758361-57758889	SK-N-SH_RA	brain:	n/a	chr5:57758565-57758579 chr5:57758655-57758674
27	CTCF	chr5:57758480-57758630	RPTEC	kidney:	n/a	n/a
28	RFX5	chr5:57758510-57758876	Hela-S3	cervix:	n/a	n/a
29	RAD21	chr5:57758383-57758847	SK-N-SH_RA	brain:	n/a	chr5:57758565-57758579 chr5:57758655-57758674
30	CTCF	chr5:57758461-57758824	A549	lung:	n/a	chr5:57758657-57758675 chr5:57758652-57758673
31	CTCF	chr5:57757767-57759107	SK-N-SH	brain:	n/a	chr5:57758657-57758675 chr5:57758652-57758673
32	RAD21	chr5:57758444-57758700	HepG2	liver:	n/a	chr5:57758565-57758579 chr5:57758655-57758674
33	CTCF	chr5:57758442-57758852	K562	blood:	n/a	chr5:57758657-57758675 chr5:57758652-57758673
34	RAD21	chr5:57758466-57758920	MCF-7	breast:	n/a	chr5:57758565-57758579 chr5:57758655-57758674
35	CTCF	chr5:57758469-57758784	A549	lung:	n/a	chr5:57758657-57758675 chr5:57758652-57758673
36	CTCF	chr5:57758411-57758884	GM12878	blood:	n/a	chr5:57758657-57758675 chr5:57758652-57758673
37	CTCF	chr5:57758480-57758630	HAc	cerebellar:	n/a	n/a
38	RAD21	chr5:57758465-57758817	K562	blood:	n/a	chr5:57758565-57758579 chr5:57758655-57758674
39	RAD21	chr5:57758381-57758855	H1-hESC	embryonic stem cell:	n/a	chr5:57758565-57758579 chr5:57758655-57758674
40	SMC3	chr5:57757992-57758859	HepG2	liver:	n/a	n/a
41	CHD1	chr5:57758483-57758584	H1-hESC	embryonic stem cell:	n/a	n/a
42	RAD21	chr5:57758350-57758905	HepG2	liver:	n/a	chr5:57758565-57758579 chr5:57758655-57758674
43	ARID3A	chr5:57757910-57758864	HepG2	liver:	n/a	n/a
44	BHLHE40	chr5:57758495-57758791	GM12878	blood:	n/a	n/a
45	SMC3	chr5:57758491-57758834	K562	blood:	n/a	n/a
46	RAD21	chr5:57758490-57758773	GM12878	blood:	n/a	chr5:57758565-57758579 chr5:57758655-57758674
47	CTCF	chr5:57758500-57758650	GM12870	blood:	n/a	n/a
48	CTCF	chr5:57758492-57758781	A549	lung:	n/a	chr5:57758657-57758675 chr5:57758652-57758673
49	RAD21	chr5:57758392-57758869	IMR90	lung:	n/a	chr5:57758565-57758579 chr5:57758655-57758674
50	CTCF	chr5:57758500-57758650	HVMF	connective:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:56794902..56795621-chr5:57757731..57758730,3	MCF-7	breast:
2	chr5:56945939..56946713-chr5:57758035..57758681,2	MCF-7	breast:
3	chr5:57068006..57070437-chr5:57756613..57758535,2	MCF-7	breast:
4	chr5:56593727..56594960-chr5:57758232..57759149,6	K562	blood:
5	chr5:57074803..57075728-chr5:57758254..57758808,2	MCF-7	breast:
6	chr5:57364074..57376813-chr5:57753679..57758569,26	MCF-7	breast:
7	chr5:57183442..57184369-chr5:57758207..57759006,3	MCF-7	breast:
8	chr5:57158588..57161134-chr5:57757060..57758676,2	MCF-7	breast:

Variant related genes	Relation type
PLK2	TF binding region
ENSG00000238899	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11739694	1.00[ASN][1000 genomes]
rs11741689	1.00[ASN][1000 genomes]
rs11746501	1.00[ASN][1000 genomes]
rs11747268	1.00[ASN][1000 genomes]
rs11747708	1.00[ASN][1000 genomes]
rs11948189	1.00[ASN][1000 genomes]
rs11949041	1.00[ASN][1000 genomes]
rs11949753	1.00[ASN][1000 genomes]
rs11950095	1.00[ASN][1000 genomes]
rs11957466	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11958256	1.00[ASN][1000 genomes]
rs11958495	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12188785	1.00[ASN][1000 genomes]
rs12518781	1.00[ASN][1000 genomes]
rs13159762	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13168504	1.00[ASN][1000 genomes]
rs13168895	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13174477	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13176857	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13184050	0.85[ASN][1000 genomes]
rs15915	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1605739	1.00[ASN][1000 genomes]
rs1605740	1.00[ASN][1000 genomes]
rs17773396	1.00[ASN][1000 genomes]
rs4700297	1.00[ASN][1000 genomes]
rs57844100	0.92[ASN][1000 genomes]
rs59598546	1.00[ASN][1000 genomes]
rs62366360	1.00[ASN][1000 genomes]
rs62366397	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62366400	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62366401	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62366402	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62366403	1.00[ASN][1000 genomes]
rs62366404	1.00[ASN][1000 genomes]
rs62366441	1.00[ASN][1000 genomes]
rs62366446	1.00[ASN][1000 genomes]
rs62366447	1.00[ASN][1000 genomes]
rs62366448	1.00[ASN][1000 genomes]
rs62367805	0.85[ASN][1000 genomes]
rs6870990	1.00[ASN][1000 genomes]
rs6889999	1.00[ASN][1000 genomes]
rs726842	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7721366	0.92[ASN][1000 genomes]
rs963615	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57756800-57758600	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr5:57756800-57758600	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr5:57756800-57758600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr5:57756800-57758600	Enhancers	Dnd41	blood
5	chr5:57756800-57758600	Enhancers	HUVEC	blood vessel
6	chr5:57756800-57759200	Weak transcription	Small Intestine	intestine
7	chr5:57756800-57762800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr5:57756800-57762800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:57757000-57758600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:57757000-57758600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:57757000-57758600	Enhancers	Hela-S3	cervix
12	chr5:57757000-57762600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr5:57757000-57763200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr5:57757000-57765600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr5:57757600-57758600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr5:57757600-57758600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:57757600-57758600	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr5:57757600-57758600	Enhancers	NHEK	skin
19	chr5:57757800-57758600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:57757800-57758600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr5:57757800-57758600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:57757800-57758600	Flanking Active TSS	A549	lung
23	chr5:57757800-57758600	Enhancers	NH-A	brain
24	chr5:57758000-57758600	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr5:57758000-57758600	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr5:57758000-57758600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr5:57758000-57758600	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr5:57758000-57758600	Flanking Active TSS	HepG2	liver
29	chr5:57758000-57758600	Enhancers	HSMM	muscle
30	chr5:57758000-57758600	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr5:57758000-57758600	Enhancers	NHDF-Ad	bronchial
32	chr5:57758000-57758600	Enhancers	Osteobl	bone
33	chr5:57758200-57758600	Enhancers	Stomach Mucosa	stomach
34	chr5:57758200-57759000	Enhancers	Liver	Liver
35	chr5:57758200-57759000	Enhancers	Brain Hippocampus Middle	brain
36	chr5:57758200-57760000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr5:57758400-57758600	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr5:57758400-57758600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr5:57758400-57758600	Enhancers	Muscle Satellite Cultured Cells	--
40	chr5:57758400-57758600	Enhancers	Brain Anterior Caudate	brain
41	chr5:57758400-57758600	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr5:57758400-57758600	Enhancers	Brain Substantia Nigra	brain
43	chr5:57758400-57758600	Enhancers	Colon Smooth Muscle	Colon
44	chr5:57758400-57758600	Enhancers	Fetal Brain Male	brain
45	chr5:57758400-57758600	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr5:57758400-57762600	Weak transcription	GM12878-XiMat	blood

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