Variant report

Variant	rs72720288
Chromosome Location	chr14:69727818-69727819
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	CTCF	chr14:69727680-69727830	RPTEC	kidney:	n/a	n/a
2	CTCF	chr14:69727680-69727830	SK-N-SH_RA	brain:	n/a	n/a
3	CTCF	chr14:69727802-69728262	HCT-116	colon:	n/a	chr14:69728138-69728151 chr14:69728001-69728019
4	EGR1	chr14:69727722-69728075	K562	blood:	n/a	chr14:69727926-69727940 chr14:69727978-69727987 chr14:69727975-69727988 chr14:69727975-69727988 chr14:69727976-69727990 chr14:69727975-69727988 chr14:69727975-69727989 chr14:69727975-69727988
5	CTCF	chr14:69727477-69728364	A549	lung:	n/a	chr14:69728138-69728151 chr14:69728001-69728019
6	TCF12	chr14:69727790-69728274	ECC-1	luminal epithelium:	n/a	n/a
7	CTCF	chr14:69727700-69727850	GM12868	blood:	n/a	n/a
8	CTCF	chr14:69727805-69728243	GM12878	blood:	n/a	chr14:69728138-69728151 chr14:69728001-69728019
9	ZEB1	chr14:69727805-69728180	GM12878	blood:	n/a	n/a
10	EGR1	chr14:69727787-69728070	GM12878	blood:	n/a	chr14:69727926-69727940 chr14:69727978-69727987 chr14:69727975-69727988 chr14:69727975-69727988 chr14:69727976-69727990 chr14:69727975-69727988 chr14:69727975-69727989 chr14:69727975-69727988
11	ZBTB7A	chr14:69727260-69728358	ECC-1	luminal epithelium:	n/a	chr14:69728009-69728018
12	ZBTB7A	chr14:69727153-69728460	ECC-1	luminal epithelium:	n/a	chr14:69728009-69728018
13	CTCF	chr14:69727758-69728182	GM12891	blood:	n/a	chr14:69728138-69728151 chr14:69728001-69728019
14	CTCF	chr14:69727609-69728254	H1-hESC	embryonic stem cell:	n/a	chr14:69728138-69728151 chr14:69728001-69728019
15	POLR2A	chr14:69727348-69728226	H1-neurons	neurons:	n/a	n/a
16	MAX	chr14:69726791-69728420	H1-hESC	embryonic stem cell:	n/a	chr14:69728085-69728095 chr14:69727394-69727404
17	RAD21	chr14:69727811-69728210	HepG2	liver:	n/a	n/a
18	YY1	chr14:69727795-69728240	HepG2	liver:	n/a	chr14:69727977-69727986
19	ELF1	chr14:69727673-69728383	GM12878	blood:	n/a	n/a
20	RAD21	chr14:69727782-69728318	HCT-116	colon:	n/a	n/a
21	RAD21	chr14:69727769-69728363	HCT-116	colon:	n/a	chr14:69728341-69728353
22	CTCF	chr14:69727661-69728176	GM19238	blood:	n/a	chr14:69728138-69728151 chr14:69728001-69728019
23	EGR1	chr14:69727809-69728116	GM12878	blood:	n/a	chr14:69727926-69727940 chr14:69727978-69727987 chr14:69727975-69727988 chr14:69727975-69727988 chr14:69727976-69727990 chr14:69727975-69727988 chr14:69727975-69727989 chr14:69727975-69727988
24	EGR1	chr14:69727769-69728322	ECC-1	luminal epithelium:	n/a	chr14:69727926-69727940 chr14:69728142-69728151 chr14:69727978-69727987 chr14:69727975-69727988 chr14:69727975-69727988 chr14:69727976-69727990 chr14:69727975-69727988 chr14:69727975-69727989 chr14:69727975-69727988
25	TCF12	chr14:69727739-69728313	A549	lung:	n/a	chr14:69727743-69727753
26	RAD21	chr14:69727762-69728343	A549	lung:	n/a	n/a
27	CTBP2	chr14:69727025-69729465	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAX	chr14:69726064-69728368	A549	lung:	n/a	chr14:69726367-69726377 chr14:69728085-69728095 chr14:69727394-69727404
29	RAD21	chr14:69727760-69728271	ECC-1	luminal epithelium:	n/a	n/a
30	RAD21	chr14:69727712-69728265	H1-hESC	embryonic stem cell:	n/a	n/a
31	ZNF143	chr14:69727757-69728188	H1-hESC	embryonic stem cell:	n/a	n/a
32	MAX	chr14:69726879-69728267	H1-hESC	embryonic stem cell:	n/a	chr14:69728085-69728095 chr14:69727394-69727404
33	RAD21	chr14:69727761-69728386	SK-N-SH	brain:	n/a	chr14:69728341-69728353
34	CTCF	chr14:69727793-69728303	HCT-116	colon:	n/a	chr14:69728138-69728151 chr14:69728001-69728019
35	EGR1	chr14:69727776-69728107	K562	blood:	n/a	chr14:69727926-69727940 chr14:69727978-69727987 chr14:69727975-69727988 chr14:69727975-69727988 chr14:69727976-69727990 chr14:69727975-69727988 chr14:69727975-69727989 chr14:69727975-69727988
36	EGR1	chr14:69727712-69728289	H1-hESC	embryonic stem cell:	n/a	chr14:69727926-69727940 chr14:69728142-69728151 chr14:69727978-69727987 chr14:69727975-69727988 chr14:69727975-69727988 chr14:69727976-69727990 chr14:69727975-69727988 chr14:69727975-69727989 chr14:69727975-69727988
37	CTCF	chr14:69727680-69727830	HEEpiC	esophagus:	n/a	n/a
38	CTCF	chr14:69727782-69728277	MCF-7	breast:	n/a	chr14:69728138-69728151 chr14:69728001-69728019
39	MAZ	chr14:69727156-69728302	IMR90	lung:	n/a	chr14:69728085-69728095 chr14:69727394-69727404
40	REST	chr14:69725769-69728816	H1-neurons	neurons:	n/a	chr14:69727673-69727686 chr14:69728737-69728746 chr14:69726368-69726381 chr14:69726451-69726464
41	MAX	chr14:69727765-69728226	A549	lung:	n/a	chr14:69728085-69728095
42	SMC3	chr14:69726285-69728318	SK-N-SH	brain:	n/a	chr14:69726979-69726989
43	SIN3AK20	chr14:69727639-69728120	H1-hESC	embryonic stem cell:	n/a	n/a
44	CHD2	chr14:69727741-69728156	H1-hESC	embryonic stem cell:	n/a	chr14:69727882-69727891
45	POLR2A	chr14:69726171-69728123	H1-neurons	neurons:	n/a	n/a
46	CTCF	chr14:69727501-69728506	SK-N-SH	brain:	n/a	chr14:69728138-69728151 chr14:69728001-69728019
47	SIN3A	chr14:69726100-69728303	H1-hESC	embryonic stem cell:	n/a	chr14:69726370-69726381 chr14:69726368-69726381 chr14:69726549-69726562 chr14:69726451-69726464 chr14:69728000-69728011 chr14:69727673-69727686

No.	Distal block	Cell Line	Cell type
1	chr14:69618346..69620839-chr14:69725644..69728530,2	K562	blood:
2	chr14:69727618..69729790-chr14:69814011..69815808,2	MCF-7	breast:
3	chr14:69727609..69728342-chr14:69754055..69754863,2	MCF-7	breast:
4	chr14:69725007..69726922-chr14:69727480..69730109,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258520	TF binding region
ENSG00000139990	Chromatin interaction
ENSG00000100626	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11620883	0.93[EUR][1000 genomes]
rs2877537	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4389087	0.93[EUR][1000 genomes]
rs55714609	0.93[EUR][1000 genomes]
rs55836617	0.93[EUR][1000 genomes]
rs56270411	0.93[EUR][1000 genomes]
rs59186728	0.93[EUR][1000 genomes]
rs72720275	0.93[EUR][1000 genomes]
rs72720276	0.93[EUR][1000 genomes]
rs72720277	0.93[EUR][1000 genomes]
rs72720278	0.93[EUR][1000 genomes]
rs72720280	0.93[EUR][1000 genomes]
rs72720285	0.93[EUR][1000 genomes]
rs72720290	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72720298	0.83[AMR][1000 genomes];0.82[EUR][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	esv3421651	chr14:69725724-69728572	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv3363263	chr14:69725949-69729047	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69725400-69728400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr14:69725600-69728400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr14:69725800-69728600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
4	chr14:69726000-69728200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
5	chr14:69726000-69728400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr14:69726000-69728400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr14:69726000-69728400	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr14:69726000-69728600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr14:69726000-69728600	Active TSS	Right Atrium	heart
10	chr14:69726200-69728000	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr14:69726200-69728200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:69726200-69728200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr14:69726200-69728200	Active TSS	Aorta	Aorta
14	chr14:69726200-69728400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:69726200-69728400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
16	chr14:69726200-69728400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
17	chr14:69726200-69728400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
18	chr14:69726200-69728400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr14:69726200-69728400	Active TSS	Brain Anterior Caudate	brain
20	chr14:69726200-69728400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr14:69726400-69728000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr14:69726400-69728000	Active TSS	Brain Angular Gyrus	brain
23	chr14:69726400-69728200	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr14:69726400-69728200	Active TSS	Fetal Brain Female	brain
25	chr14:69726400-69728200	Active TSS	Gastric	stomach
26	chr14:69726400-69728200	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
27	chr14:69726400-69728200	Active TSS	HSMM	muscle
28	chr14:69726400-69728200	Active TSS	HSMMtube	muscle
29	chr14:69726400-69728200	Active TSS	NHDF-Ad	bronchial
30	chr14:69726400-69728400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
31	chr14:69726400-69728400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr14:69726400-69728400	Bivalent Enhancer	Primary B cells from cord blood	blood
33	chr14:69726400-69728400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
34	chr14:69726400-69728400	Active TSS	Right Ventricle	heart
35	chr14:69726400-69728600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr14:69726400-69728600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
37	chr14:69726400-69728600	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr14:69726400-69728600	Active TSS	Left Ventricle	heart
39	chr14:69726400-69728800	Active TSS	Fetal Intestine Small	intestine
40	chr14:69726400-69729000	Active TSS	H9 Cell Line	embryonic stem cell
41	chr14:69726400-69729000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
42	chr14:69727000-69728000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr14:69727000-69728000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
44	chr14:69727000-69728200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr14:69727000-69728200	Flanking Active TSS	Pancreas	Pancrea
46	chr14:69727000-69728400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
47	chr14:69727000-69728400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr14:69727000-69728400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
49	chr14:69727000-69728600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr14:69727000-69728800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose

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