Variant report

Variant	rs573730937
Chromosome Location	chr14:72399259-72399260
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	POLR2A	chr14:72398588-72399272	HCT-116	colon:	n/a	n/a
2	TCF12	chr14:72398757-72399290	H1-hESC	embryonic stem cell:	n/a	n/a
3	CHD2	chr14:72399063-72399400	GM12878	blood:	n/a	chr14:72399288-72399298
4	MAX	chr14:72398707-72399449	ECC-1	luminal epithelium:	n/a	chr14:72399021-72399028
5	TAF1	chr14:72399018-72399359	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr14:72398800-72399433	MCF-7	breast:	n/a	n/a
7	POLR2A	chr14:72399035-72399342	GM12878	blood:	n/a	n/a
8	PAX5	chr14:72398866-72399330	GM12892	blood:	n/a	n/a
9	TAF7	chr14:72398858-72399454	H1-hESC	embryonic stem cell:	n/a	n/a
10	RAD21	chr14:72398531-72399621	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAX	chr14:72398522-72399656	H1-hESC	embryonic stem cell:	n/a	chr14:72399021-72399028
12	MAX	chr14:72398867-72399317	A549	lung:	n/a	chr14:72399021-72399028
13	SMC3	chr14:72398477-72399300	GM12878	blood:	n/a	n/a
14	POLR2A	chr14:72398997-72399424	ProgFib	skin:	n/a	n/a
15	MAZ	chr14:72399063-72399263	GM12878	blood:	n/a	n/a
16	CTCF	chr14:72398603-72399332	MCF-7	breast:	n/a	chr14:72399007-72399020
17	E2F6	chr14:72398543-72399598	H1-hESC	embryonic stem cell:	n/a	chr14:72399109-72399119 chr14:72398963-72398973 chr14:72398995-72399004
18	NANOG	chr14:72398994-72399352	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr14:72398481-72399310	MCF-7	breast:	n/a	chr14:72399007-72399020
20	ELF1	chr14:72398824-72399274	GM12878	blood:	n/a	chr14:72398963-72398975
21	POLR2A	chr14:72398870-72400770	GM12892	blood:	n/a	n/a
22	MAX	chr14:72398511-72399497	MCF-7	breast:	n/a	chr14:72399021-72399028
23	STAT5A	chr14:72399086-72399459	GM12878	blood:	n/a	chr14:72399288-72399300
24	TCF12	chr14:72398780-72399282	H1-hESC	embryonic stem cell:	n/a	n/a
25	CEBPB	chr14:72398955-72399284	H1-hESC	embryonic stem cell:	n/a	n/a
26	MAX	chr14:72398360-72399596	MCF-7	breast:	n/a	chr14:72399021-72399028
27	BRCA1	chr14:72398988-72399284	H1-hESC	embryonic stem cell:	n/a	n/a
28	GABPA	chr14:72398873-72399473	H1-hESC	embryonic stem cell:	n/a	chr14:72398995-72399004 chr14:72399109-72399118 chr14:72398964-72398973
29	CTBP2	chr14:72398707-72399608	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr14:72398584-72399275	MCF-7	breast:	n/a	chr14:72399007-72399020
31	POLR2A	chr14:72398585-72399524	MCF-7	breast:	n/a	n/a
32	CBX3	chr14:72398564-72399380	HCT-116	colon:	n/a	n/a
33	YY1	chr14:72398971-72399376	GM12892	blood:	n/a	chr14:72399000-72399011
34	MAX	chr14:72398527-72399318	HCT-116	colon:	n/a	chr14:72399021-72399028
35	RAD21	chr14:72398454-72399353	HCT-116	colon:	n/a	n/a
36	CTCF	chr14:72398620-72399308	T-47D	breast:	n/a	chr14:72399007-72399020
37	GTF2F1	chr14:72398845-72399559	H1-hESC	embryonic stem cell:	n/a	n/a
38	RAD21	chr14:72398440-72399321	HCT-116	colon:	n/a	n/a
39	CHD1	chr14:72399089-72399344	H1-hESC	embryonic stem cell:	n/a	chr14:72399288-72399298
40	RAD21	chr14:72398575-72399525	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr14:72398590-72399269	GM19240	blood:	n/a	chr14:72399007-72399020
42	ZNF143	chr14:72398541-72399304	GM12878	blood:	n/a	chr14:72399109-72399119 chr14:72398831-72398841 chr14:72398963-72398973
43	PAX5	chr14:72398901-72399299	GM12878	blood:	n/a	n/a
44	RAD21	chr14:72398565-72399389	H1-hESC	embryonic stem cell:	n/a	n/a
45	YY1	chr14:72398838-72399281	H1-hESC	embryonic stem cell:	n/a	chr14:72399000-72399011 chr14:72398962-72398971 chr14:72398962-72398976
46	ELF1	chr14:72398605-72399638	GM12878	blood:	n/a	chr14:72398963-72398975
47	BHLHE40	chr14:72398884-72399276	GM12878	blood:	n/a	chr14:72399122-72399138
48	ZEB1	chr14:72398560-72399600	GM12878	blood:	n/a	chr14:72399060-72399072 chr14:72399063-72399072 chr14:72398948-72398955
49	TBP	chr14:72398586-72399566	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr14:72398821-72399311	H1-hESC	embryonic stem cell:	n/a	chr14:72399007-72399020

Variant related genes	Relation type
RGS6	TF binding region

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:91 , 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	chr14:72398600-72399400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr14:72398600-72399400	Bivalent/Poised TSS	Brain Angular Gyrus	brain
21	chr14:72398600-72399400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
22	chr14:72398600-72399400	Active TSS	Brain Hippocampus Middle	brain
23	chr14:72398600-72399400	Bivalent/Poised TSS	HepG2	liver
24	chr14:72398600-72399600	Active TSS	H9 Cell Line	embryonic stem cell
25	chr14:72398600-72399600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr14:72398600-72399600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr14:72398600-72399600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr14:72398600-72399600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
29	chr14:72398600-72399600	Active TSS	Brain Substantia Nigra	brain
30	chr14:72398600-72399600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
31	chr14:72398600-72399600	Bivalent/Poised TSS	A549	lung
32	chr14:72398600-72399800	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr14:72398600-72399800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
34	chr14:72398600-72400000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
35	chr14:72398600-72400000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
36	chr14:72398600-72400200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
37	chr14:72398600-72400200	Bivalent/Poised TSS	Psoas Muscle	Psoas
38	chr14:72398600-72400600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
39	chr14:72398600-72402800	Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr14:72398800-72399400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:72398800-72399400	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr14:72398800-72399400	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr14:72398800-72399400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr14:72398800-72399400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr14:72398800-72399600	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr14:72398800-72399600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr14:72398800-72399600	Bivalent Enhancer	Primary B cells from cord blood	blood
48	chr14:72398800-72399600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr14:72398800-72399600	Active TSS	Brain Anterior Caudate	brain
50	chr14:72398800-72399600	Active TSS	Brain Inferior Temporal Lobe	brain

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