Variant report

Variant	rs568663084
Chromosome Location	chr14:72399044-72399045
allele	C/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	CTCF	chr14:72398903-72399239	NHEK	skin:	n/a	chr14:72399007-72399020
2	CTCF	chr14:72398960-72399110	GM06990	blood:	n/a	chr14:72399007-72399020
3	POLR2A	chr14:72398588-72399272	HCT-116	colon:	n/a	n/a
4	CTCF	chr14:72398968-72399229	HepG2	liver:	n/a	chr14:72399007-72399020
5	TCF12	chr14:72398757-72399290	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr14:72398981-72399188	Spleen_OC	spleen:	n/a	chr14:72399007-72399020
7	CTCF	chr14:72399000-72399150	HCT-116	colon:	n/a	chr14:72399007-72399020
8	MAX	chr14:72398707-72399449	ECC-1	luminal epithelium:	n/a	chr14:72399021-72399028
9	TAF1	chr14:72399018-72399359	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr14:72398800-72399433	MCF-7	breast:	n/a	n/a
11	CTCF	chr14:72399000-72399150	HRPEpiC	eye:	n/a	chr14:72399007-72399020
12	POLR2A	chr14:72399035-72399342	GM12878	blood:	n/a	n/a
13	PAX5	chr14:72398866-72399330	GM12892	blood:	n/a	n/a
14	CTCF	chr14:72398922-72399257	A549	lung:	n/a	chr14:72399007-72399020
15	TAF7	chr14:72398858-72399454	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr14:72399020-72399170	GM12870	blood:	n/a	n/a
17	CTCF	chr14:72399040-72399190	GM12866	blood:	n/a	n/a
18	CTCF	chr14:72399040-72399190	HMEC	breast:	n/a	n/a
19	RAD21	chr14:72398531-72399621	H1-hESC	embryonic stem cell:	n/a	n/a
20	NRF1	chr14:72399020-72399222	H1-hESC	embryonic stem cell:	n/a	chr14:72399109-72399118
21	MAX	chr14:72398522-72399656	H1-hESC	embryonic stem cell:	n/a	chr14:72399021-72399028
22	MAX	chr14:72398867-72399317	A549	lung:	n/a	chr14:72399021-72399028
23	CTCF	chr14:72398980-72399130	AG09309	skin:	n/a	chr14:72399007-72399020
24	CTCF	chr14:72399040-72399190	SAEC	small airway:	n/a	n/a
25	SMC3	chr14:72398477-72399300	GM12878	blood:	n/a	n/a
26	POLR2A	chr14:72398997-72399424	ProgFib	skin:	n/a	n/a
27	CTCF	chr14:72399020-72399170	NHEK	skin:	n/a	n/a
28	BCL3	chr14:72398918-72399258	GM12878	blood:	n/a	chr14:72398995-72399008 chr14:72398962-72398975 chr14:72398955-72398968 chr14:72399111-72399124 chr14:72398960-72398969
29	RAD21	chr14:72399021-72399196	SK-N-SH_RA	brain:	n/a	n/a
30	CTCF	chr14:72398603-72399332	MCF-7	breast:	n/a	chr14:72399007-72399020
31	E2F6	chr14:72398543-72399598	H1-hESC	embryonic stem cell:	n/a	chr14:72399109-72399119 chr14:72398963-72398973 chr14:72398995-72399004
32	NANOG	chr14:72398994-72399352	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr14:72398481-72399310	MCF-7	breast:	n/a	chr14:72399007-72399020
34	CTCF	chr14:72399040-72399190	GM12865	blood:	n/a	n/a
35	ELF1	chr14:72398824-72399274	GM12878	blood:	n/a	chr14:72398963-72398975
36	MXI1	chr14:72398564-72399229	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr14:72399040-72399190	GM12871	blood:	n/a	n/a
38	POLR2A	chr14:72398870-72400770	GM12892	blood:	n/a	n/a
39	MAX	chr14:72398511-72399497	MCF-7	breast:	n/a	chr14:72399021-72399028
40	CTCF	chr14:72399000-72399150	AG04449	skin:	n/a	chr14:72399007-72399020
41	ZEB1	chr14:72398809-72399234	HepG2	liver:	n/a	chr14:72399060-72399072 chr14:72399063-72399072 chr14:72398948-72398955
42	TCF12	chr14:72398780-72399282	H1-hESC	embryonic stem cell:	n/a	n/a
43	CEBPB	chr14:72398955-72399284	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr14:72398962-72399215	GM13976	blood:	n/a	chr14:72399007-72399020
45	MAX	chr14:72398360-72399596	MCF-7	breast:	n/a	chr14:72399021-72399028
46	CTCF	chr14:72398930-72399243	GM10266	blood:	n/a	chr14:72399007-72399020
47	BRCA1	chr14:72398988-72399284	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr14:72398900-72399246	GM12878	blood:	n/a	chr14:72399007-72399020
49	CTCF	chr14:72398891-72399251	GM12891	blood:	n/a	chr14:72399007-72399020
50	GABPA	chr14:72398873-72399473	H1-hESC	embryonic stem cell:	n/a	chr14:72398995-72399004 chr14:72399109-72399118 chr14:72398964-72398973

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:72398495..72399195-chr14:72887196..72888373,4	MCF-7	breast:

Variant related genes	Relation type
RGS6	TF binding region
ENSG00000182732	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3398985	chr14:71927884-72404676	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	esv3425540	chr14:72397724-72400572	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72398000-72399600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
2	chr14:72398000-72400800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr14:72398400-72399400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
4	chr14:72398400-72399400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
5	chr14:72398400-72399400	Bivalent/Poised TSS	Fetal Brain Female	brain
6	chr14:72398400-72399600	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
7	chr14:72398400-72399600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
8	chr14:72398400-72399600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr14:72398400-72399600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr14:72398400-72400200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr14:72398400-72400200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
12	chr14:72398400-72400200	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr14:72398400-72400400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
14	chr14:72398400-72400400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
15	chr14:72398400-72400400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr14:72398400-72400400	Bivalent Enhancer	Liver	Liver
17	chr14:72398400-72401600	Active TSS	Right Atrium	heart
18	chr14:72398400-72401800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr14:72398600-72399200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr14:72398600-72399200	Bivalent/Poised TSS	Adipose Nuclei	Adipose
21	chr14:72398600-72399200	Active TSS	Esophagus	oesophagus
22	chr14:72398600-72399200	Active TSS	Left Ventricle	heart
23	chr14:72398600-72399200	Active TSS	Ovary	ovary
24	chr14:72398600-72399200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
25	chr14:72398600-72399200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
26	chr14:72398600-72399400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr14:72398600-72399400	Bivalent/Poised TSS	Brain Angular Gyrus	brain
28	chr14:72398600-72399400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
29	chr14:72398600-72399400	Active TSS	Brain Hippocampus Middle	brain
30	chr14:72398600-72399400	Bivalent/Poised TSS	HepG2	liver
31	chr14:72398600-72399600	Active TSS	H9 Cell Line	embryonic stem cell
32	chr14:72398600-72399600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr14:72398600-72399600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr14:72398600-72399600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr14:72398600-72399600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
36	chr14:72398600-72399600	Active TSS	Brain Substantia Nigra	brain
37	chr14:72398600-72399600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
38	chr14:72398600-72399600	Bivalent/Poised TSS	A549	lung
39	chr14:72398600-72399800	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr14:72398600-72399800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
41	chr14:72398600-72400000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
42	chr14:72398600-72400000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
43	chr14:72398600-72400200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
44	chr14:72398600-72400200	Bivalent/Poised TSS	Psoas Muscle	Psoas
45	chr14:72398600-72400600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
46	chr14:72398600-72402800	Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr14:72398800-72399200	Flanking Active TSS	Right Ventricle	heart
48	chr14:72398800-72399200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
49	chr14:72398800-72399400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr14:72398800-72399400	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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