Variant report

Variant	rs549054114
Chromosome Location	chr14:72398846-72398847
allele	A/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	MAX	chr14:72398707-72399449	ECC-1	luminal epithelium:	n/a	chr14:72399021-72399028
4	POLR2A	chr14:72398800-72399433	MCF-7	breast:	n/a	n/a
5	RAD21	chr14:72398531-72399621	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr14:72398522-72399656	H1-hESC	embryonic stem cell:	n/a	chr14:72399021-72399028
7	SMC3	chr14:72398477-72399300	GM12878	blood:	n/a	n/a
8	CTCF	chr14:72398603-72399332	MCF-7	breast:	n/a	chr14:72399007-72399020
9	E2F6	chr14:72398543-72399598	H1-hESC	embryonic stem cell:	n/a	chr14:72399109-72399119 chr14:72398963-72398973 chr14:72398995-72399004
10	CTCF	chr14:72398481-72399310	MCF-7	breast:	n/a	chr14:72399007-72399020
11	ELF1	chr14:72398824-72399274	GM12878	blood:	n/a	chr14:72398963-72398975
12	MXI1	chr14:72398564-72399229	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAX	chr14:72398511-72399497	MCF-7	breast:	n/a	chr14:72399021-72399028
14	ZEB1	chr14:72398809-72399234	HepG2	liver:	n/a	chr14:72399060-72399072 chr14:72399063-72399072 chr14:72398948-72398955
15	TCF12	chr14:72398780-72399282	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAX	chr14:72398360-72399596	MCF-7	breast:	n/a	chr14:72399021-72399028
17	CTBP2	chr14:72398707-72399608	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr14:72398584-72399275	MCF-7	breast:	n/a	chr14:72399007-72399020
19	ZEB1	chr14:72398786-72399240	GM12878	blood:	n/a	chr14:72399060-72399072 chr14:72399063-72399072 chr14:72398948-72398955
20	POLR2A	chr14:72398585-72399524	MCF-7	breast:	n/a	n/a
21	CBX3	chr14:72398564-72399380	HCT-116	colon:	n/a	n/a
22	MAX	chr14:72398527-72399318	HCT-116	colon:	n/a	chr14:72399021-72399028
23	RAD21	chr14:72398454-72399353	HCT-116	colon:	n/a	n/a
24	CTCF	chr14:72398620-72399308	T-47D	breast:	n/a	chr14:72399007-72399020
25	GTF2F1	chr14:72398845-72399559	H1-hESC	embryonic stem cell:	n/a	n/a
26	RAD21	chr14:72398440-72399321	HCT-116	colon:	n/a	n/a
27	POLR2A	chr14:72398692-72399113	HCT-116	colon:	n/a	n/a
28	RAD21	chr14:72398575-72399525	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr14:72398590-72399269	GM19240	blood:	n/a	chr14:72399007-72399020
30	ZNF143	chr14:72398541-72399304	GM12878	blood:	n/a	chr14:72399109-72399119 chr14:72398831-72398841 chr14:72398963-72398973
31	RAD21	chr14:72398565-72399389	H1-hESC	embryonic stem cell:	n/a	n/a
32	YY1	chr14:72398838-72399281	H1-hESC	embryonic stem cell:	n/a	chr14:72399000-72399011 chr14:72398962-72398971 chr14:72398962-72398976
33	ELF1	chr14:72398605-72399638	GM12878	blood:	n/a	chr14:72398963-72398975
34	ZEB1	chr14:72398560-72399600	GM12878	blood:	n/a	chr14:72399060-72399072 chr14:72399063-72399072 chr14:72398948-72398955
35	TBP	chr14:72398586-72399566	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr14:72398821-72399311	H1-hESC	embryonic stem cell:	n/a	chr14:72399007-72399020
37	RAD21	chr14:72398550-72399299	GM12878	blood:	n/a	n/a
38	CTCF	chr14:72398740-72398890	GM12873	blood:	n/a	n/a
39	EP300	chr14:72398798-72399169	H1-hESC	embryonic stem cell:	n/a	chr14:72398964-72398973 chr14:72399109-72399118 chr14:72398961-72398970
40	CTCF	chr14:72398460-72399379	MCF-7	breast:	n/a	chr14:72399007-72399020
41	GABPA	chr14:72398720-72399551	H1-hESC	embryonic stem cell:	n/a	chr14:72398995-72399004 chr14:72399109-72399118 chr14:72398964-72398973
42	CTCF	chr14:72398487-72399319	GM12878	blood:	n/a	chr14:72399007-72399020
43	JUND	chr14:72398551-72399267	H1-hESC	embryonic stem cell:	n/a	chr14:72398996-72399005
44	HA-E2F1	chr14:72398527-72400218	MCF-7	breast:	n/a	chr14:72399109-72399119 chr14:72398963-72398973 chr14:72398995-72399004
45	CTCF	chr14:72398776-72399314	H1-hESC	embryonic stem cell:	n/a	chr14:72399007-72399020
46	GATA3	chr14:72398764-72399201	T-47D	breast:	n/a	n/a
47	ZNF143	chr14:72398705-72399367	H1-hESC	embryonic stem cell:	n/a	chr14:72399109-72399119 chr14:72398831-72398841 chr14:72398963-72398973
48	CTCF	chr14:72398604-72399284	MCF-7	breast:	n/a	chr14:72399007-72399020
49	RUNX3	chr14:72398784-72399309	GM12878	blood:	n/a	n/a
50	MAX	chr14:72398406-72399447	HCT-116	colon:	n/a	chr14:72399021-72399028

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:72398839-72398889	PANC-1	pancreas:	n/a
2	chr14:72398839-72398889	U87	brain:	n/a
3	chr14:72398839-72398889	ECC-1	luminal epithelium:	n/a
4	chr14:72398839-72398889	HUVEC	blood vessel:	n/a
5	chr14:72398839-72398889	Hepatocyte	liver:	n/a
6	chr14:72398839-72398889	AG09309	skin:	n/a
7	chr14:72398839-72398889	LNCaP	prostate:	n/a
8	chr14:72398839-72398889	HEK293	kidney:	embryo
9	chr14:72398839-72398889	HNPCEpiC	eye:	n/a
10	chr14:72398839-72398889	Jurkat	blood:	n/a
11	chr14:72398839-72398889	HCPEpiC	choroid plexus:	n/a
12	chr14:72398839-72398889	SK-N-MC	brain:	n/a
13	chr14:72398839-72398889	ProgFib	skin:	n/a
14	chr14:72398839-72398889	HCT-116	colon:	n/a
15	chr14:72398839-72398889	MCF-7	breast:	n/a
16	chr14:72398839-72398889	SKMC	muscle:	n/a
17	chr14:72398839-72398889	GM06990	blood:	n/a
18	chr14:72398839-72398889	HepG2	liver:	n/a
19	chr14:72398839-72398889	HRE	kidney:	n/a
20	chr14:72398839-72398889	SK-N-SH_RA	brain:	n/a
21	chr14:72398839-72398889	GM12878	blood:	n/a
22	chr14:72398839-72398889	AG09319	gingival:	n/a
23	chr14:72398839-72398889	H1-hESC	embryonic stem cell:	embryo
24	chr14:72398839-72398889	GM12891	blood:	n/a
25	chr14:72398839-72398889	HPAEpiC	pulmonary alveolar:	n/a
26	chr14:72398839-72398889	NHBE	bronchial:	n/a
27	chr14:72398839-72398889	HL-60	blood:	n/a
28	chr14:72398839-72398889	AG04450	lung:	fetal
29	chr14:72398839-72398889	HIPEpiC	eye:	n/a
30	chr14:72398839-72398889	SK-N-SH	brain:	n/a
31	chr14:72398839-72398889	NHDF-neo	bronchial:	n/a
32	chr14:72398839-72398889	BJ	skin:	n/a
33	chr14:72398839-72398889	HMEC	breast:	n/a
34	chr14:72398839-72398889	GM12892	blood:	n/a
35	chr14:72398839-72398889	AoSMC	blood vessel:	n/a
36	chr14:72398839-72398889	HCF	heart:	n/a
37	chr14:72398839-72398889	NH-A	brain:	n/a
38	chr14:72398839-72398889	AG10803	skin:	n/a
39	chr14:72398839-72398889	PrEC	prostate:	n/a
40	chr14:72398839-72398889	RPTEC	kidney:	n/a
41	chr14:72398839-72398889	ovcar-3	ovarian:	n/a
42	chr14:72398839-72398889	Hela-S3	cervix:	n/a
43	chr14:72398839-72398889	BE2_C	brain:	n/a
44	chr14:72398839-72398889	HRCEpiC	kidney:	n/a
45	chr14:72398839-72398889	A549	lung:	n/a
46	chr14:72398839-72398889	Caco-2	colon:	n/a
47	chr14:72398839-72398889	GM19239	blood:	n/a
48	chr14:72398839-72398889	CMK	blood:	n/a
49	chr14:72398839-72398889	HEEpiC	esophagus:	n/a
50	chr14:72398839-72398889	MCF10A-Er-Src	breast:	n/a

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
RGS6	CpG island
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:83 , 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	chr14:72398200-72399000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
4	chr14:72398400-72399000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
5	chr14:72398400-72399400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
6	chr14:72398400-72399400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
7	chr14:72398400-72399400	Bivalent/Poised TSS	Fetal Brain Female	brain
8	chr14:72398400-72399600	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
9	chr14:72398400-72399600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
10	chr14:72398400-72399600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr14:72398400-72399600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr14:72398400-72400200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr14:72398400-72400200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
14	chr14:72398400-72400200	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr14:72398400-72400400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
16	chr14:72398400-72400400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
17	chr14:72398400-72400400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr14:72398400-72400400	Bivalent Enhancer	Liver	Liver
19	chr14:72398400-72401600	Active TSS	Right Atrium	heart
20	chr14:72398400-72401800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr14:72398600-72399000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr14:72398600-72399000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr14:72398600-72399000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
24	chr14:72398600-72399000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
25	chr14:72398600-72399000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
26	chr14:72398600-72399000	Flanking Bivalent TSS/Enh	Placenta	Placenta
27	chr14:72398600-72399000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
28	chr14:72398600-72399000	Active TSS	Pancreas	Pancrea
29	chr14:72398600-72399000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
30	chr14:72398600-72399200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr14:72398600-72399200	Bivalent/Poised TSS	Adipose Nuclei	Adipose
32	chr14:72398600-72399200	Active TSS	Esophagus	oesophagus
33	chr14:72398600-72399200	Active TSS	Left Ventricle	heart
34	chr14:72398600-72399200	Active TSS	Ovary	ovary
35	chr14:72398600-72399200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
36	chr14:72398600-72399200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
37	chr14:72398600-72399400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr14:72398600-72399400	Bivalent/Poised TSS	Brain Angular Gyrus	brain
39	chr14:72398600-72399400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
40	chr14:72398600-72399400	Active TSS	Brain Hippocampus Middle	brain
41	chr14:72398600-72399400	Bivalent/Poised TSS	HepG2	liver
42	chr14:72398600-72399600	Active TSS	H9 Cell Line	embryonic stem cell
43	chr14:72398600-72399600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr14:72398600-72399600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr14:72398600-72399600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr14:72398600-72399600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
47	chr14:72398600-72399600	Active TSS	Brain Substantia Nigra	brain
48	chr14:72398600-72399600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
49	chr14:72398600-72399600	Bivalent/Poised TSS	A549	lung
50	chr14:72398600-72399800	Flanking Active TSS	Primary hematopoietic stem cells	blood

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