Variant report

Variant	rs557745933
Chromosome Location	chr14:21566806-21566807
allele	C/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	EGR1	chr14:21566573-21567016	K562	blood:	n/a	n/a
2	PML	chr14:21566748-21567213	MCF-7	breast:	n/a	n/a
3	POLR2A	chr14:21566713-21567429	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr14:21566411-21567132	H1-neurons	neurons:	n/a	n/a
5	CTCF	chr14:21566780-21566930	AG04449	skin:	n/a	chr14:21566782-21566791
6	POLR2A	chr14:21566761-21567090	H1-hESC	embryonic stem cell:	n/a	n/a
7	ZBTB7A	chr14:21566613-21566903	K562	blood:	n/a	n/a
8	CTCF	chr14:21566740-21566890	GM12866	blood:	n/a	chr14:21566782-21566791
9	CTCF	chr14:21566792-21566814	Pancreas_OC	pancreas:	n/a	n/a
10	CTCF	chr14:21566760-21566910	GM06990	blood:	n/a	chr14:21566782-21566791
11	ELF1	chr14:21566697-21567302	MCF-7	breast:	n/a	n/a
12	EGR1	chr14:21566615-21567067	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr14:21566700-21566850	GM12866	blood:	n/a	chr14:21566782-21566791
14	CTCF	chr14:21566760-21566910	Hela-S3	cervix:	n/a	chr14:21566782-21566791
15	MAZ	chr14:21566679-21567115	GM12878	blood:	n/a	chr14:21566942-21566952
16	ZBTB7A	chr14:21566618-21566891	HepG2	liver:	n/a	n/a
17	POLR2A	chr14:21566628-21567103	HCT-116	colon:	n/a	n/a
18	CCNT2	chr14:21566640-21566835	K562	blood:	n/a	chr14:21566787-21566796
19	SIN3AK20	chr14:21566614-21567096	H1-hESC	embryonic stem cell:	n/a	n/a
20	YY1	chr14:21566597-21567076	SK-N-SH_RA	brain:	n/a	n/a
21	RCOR1	chr14:21566730-21567231	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr14:21566760-21566910	HCPEpiC	choroid plexus:	n/a	chr14:21566782-21566791
23	POLR2A	chr14:21566622-21566834	HUVEC	blood vessel:	n/a	n/a
24	SIN3AK20	chr14:21566688-21567065	HepG2	liver:	n/a	n/a
25	POLR2A	chr14:21566624-21567185	ECC-1	luminal epithelium:	n/a	n/a
26	SP1	chr14:21566645-21567164	A549	lung:	n/a	chr14:21566787-21566797 chr14:21567084-21567098 chr14:21566788-21566797 chr14:21566786-21566798 chr14:21566788-21566797 chr14:21566786-21566798 chr14:21566787-21566796 chr14:21567087-21567099
27	CTCF	chr14:21566680-21566830	SAEC	small airway:	n/a	chr14:21566782-21566791
28	ZNF143	chr14:21566770-21567044	H1-hESC	embryonic stem cell:	n/a	n/a
29	GABPA	chr14:21566700-21567183	SK-N-SH	brain:	n/a	n/a
30	CTCF	chr14:21566645-21566908	K562	blood:	n/a	chr14:21566782-21566791 chr14:21566658-21566671
31	CTCF	chr14:21566760-21566910	HRPEpiC	eye:	n/a	chr14:21566782-21566791
32	CTCF	chr14:21566760-21566910	AG09319	gingival:	n/a	chr14:21566782-21566791
33	TEAD4	chr14:21566667-21567279	HepG2	liver:	n/a	n/a
34	EP300	chr14:21566586-21566976	HepG2	liver:	n/a	chr14:21566779-21566795 chr14:21566785-21566801
35	ELF1	chr14:21566636-21567214	MCF-7	breast:	n/a	n/a
36	CHD2	chr14:21566675-21567172	HepG2	liver:	n/a	chr14:21566788-21566798
37	POLR2A	chr14:21566611-21567032	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr14:21566615-21566852	A549	lung:	n/a	n/a
39	HEY1	chr14:21566617-21567120	HepG2	liver:	n/a	n/a
40	ZBTB7A	chr14:21566623-21566955	HepG2	liver:	n/a	n/a
41	CTCF	chr14:21566740-21566890	HepG2	liver:	n/a	chr14:21566782-21566791
42	POLR2A	chr14:21566661-21567343	HepG2	liver:	n/a	n/a
43	CTCF	chr14:21566780-21566930	HAc	cerebellar:	n/a	chr14:21566782-21566791
44	CEBPB	chr14:21566797-21567029	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr14:21566611-21567376	HepG2	liver:	n/a	n/a
46	POLR2A	chr14:21566511-21567173	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr14:21566614-21567185	ECC-1	luminal epithelium:	n/a	n/a
48	CTCF	chr14:21566740-21566890	AG04450	lung:	n/a	chr14:21566782-21566791
49	POLR2A	chr14:21566668-21567139	HCT-116	colon:	n/a	n/a
50	EGR1	chr14:21566731-21566854	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:21493465..21495146-chr14:21564517..21566869,2	K562	blood:
2	chr14:21493156..21496539-chr14:21563277..21566869,4	K562	blood:
3	chr14:21538435..21540879-chr14:21565246..21568452,4	K562	blood:
4	chr14:21535130..21541812-chr14:21564802..21576767,22	MCF-7	breast:
5	chr14:21534879..21542621-chr14:21563384..21568050,9	MCF-7	breast:

Variant related genes	Relation type
ZNF219	TF binding region
TMEM253	TF binding region
ENSG00000165795	Chromatin interaction
ENSG00000165801	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
2	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv916319	chr14:21507092-21896590	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1036762	chr14:21507093-22101805	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	nsv541976	chr14:21507093-22101805	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv826882	chr14:21511021-21604201	Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv530770	chr14:21526410-21852363	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
8	nsv525724	chr14:21540863-21574690	Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	esv3490839	chr14:21565112-21567760	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	esv3490842	chr14:21565112-21567760	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	esv3423964	chr14:21565137-21567985	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	esv3324236	chr14:21565662-21567360	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21564800-21567000	Active TSS	Fetal Brain Female	brain
2	chr14:21565000-21567400	Active TSS	Sigmoid Colon	Sigmoid Colon
3	chr14:21565200-21567400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:21565200-21567400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:21565400-21567000	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr14:21565400-21567200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr14:21565400-21567200	Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr14:21565400-21567400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr14:21565400-21568000	Active TSS	H1 Cell Line	embryonic stem cell
10	chr14:21565600-21567200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr14:21565600-21567200	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr14:21565600-21567200	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr14:21565600-21567200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr14:21565600-21567200	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr14:21565600-21567200	Active TSS	HSMMtube	muscle
16	chr14:21565600-21567400	Active TSS	Right Ventricle	heart
17	chr14:21565600-21567400	Active TSS	Hela-S3	cervix
18	chr14:21565600-21567600	Active TSS	Aorta	Aorta
19	chr14:21565600-21567600	Active TSS	Esophagus	oesophagus
20	chr14:21565600-21567800	Active TSS	H9 Cell Line	embryonic stem cell
21	chr14:21565600-21567800	Active TSS	Right Atrium	heart
22	chr14:21565800-21567000	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr14:21565800-21567000	Active TSS	Adipose Nuclei	Adipose
24	chr14:21565800-21567000	Weak transcription	Fetal Heart	heart
25	chr14:21565800-21567000	Active TSS	Thymus	Thymus
26	chr14:21565800-21567200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:21565800-21567200	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr14:21565800-21567200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr14:21565800-21567200	Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr14:21565800-21567200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr14:21565800-21567200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr14:21565800-21567200	Active TSS	Brain Germinal Matrix	brain
33	chr14:21565800-21567200	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr14:21565800-21567200	Active TSS	Fetal Intestine Large	intestine
35	chr14:21565800-21567200	Active TSS	Pancreas	Pancrea
36	chr14:21565800-21567200	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr14:21565800-21567200	Active TSS	NHEK	skin
38	chr14:21565800-21567400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr14:21565800-21567400	Active TSS	Lung	lung
40	chr14:21565800-21567400	Active TSS	Ovary	ovary
41	chr14:21565800-21567600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr14:21565800-21567600	Active TSS	Colonic Mucosa	Colon
43	chr14:21566000-21567000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr14:21566000-21567000	Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr14:21566000-21567000	Active TSS	Fetal Stomach	stomach
46	chr14:21566000-21567000	Active TSS	Fetal Thymus	thymus
47	chr14:21566000-21567200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr14:21566000-21567200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr14:21566000-21567200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr14:21566000-21567200	Active TSS	Brain Anterior Caudate	brain

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