Variant report

Variant	rs543576213
Chromosome Location	chr14:65171022-65171023
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	CEBPD	chr14:65170984-65171264	HepG2	liver:	n/a	n/a
2	POLR2A	chr14:65170801-65171400	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr14:65170820-65171364	SK-N-MC	brain:	n/a	n/a
4	EGR1	chr14:65170778-65171315	ECC-1	luminal epithelium:	n/a	chr14:65171019-65171029
5	YY1	chr14:65170871-65171143	HCT-116	colon:	n/a	chr14:65170967-65170976 chr14:65170967-65170978 chr14:65170968-65170982
6	POLR2A	chr14:65170913-65171808	HL-60	blood:	n/a	n/a
7	MAX	chr14:65170738-65171499	A549	lung:	n/a	chr14:65170873-65170883 chr14:65170874-65170881 chr14:65170869-65170884 chr14:65170873-65170882
8	TCF12	chr14:65170555-65172728	A549	lung:	n/a	chr14:65172656-65172666 chr14:65171088-65171096
9	CHD1	chr14:65170208-65171187	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr14:65170828-65171255	A549	lung:	n/a	n/a
11	REST	chr14:65170931-65171227	SK-N-SH	brain:	n/a	n/a
12	BACH1	chr14:65170885-65171124	H1-hESC	embryonic stem cell:	n/a	n/a
13	GABPA	chr14:65170981-65171378	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr14:65170775-65171573	Gliobla	brain:	n/a	n/a
15	TCF12	chr14:65170885-65171277	H1-hESC	embryonic stem cell:	n/a	chr14:65171088-65171096
16	RFX5	chr14:65170898-65171482	Hela-S3	cervix:	n/a	n/a
17	ZBTB7A	chr14:65170572-65172154	ECC-1	luminal epithelium:	n/a	n/a
18	POLR2A	chr14:65170990-65171404	SK-N-SH	brain:	n/a	n/a
19	MAZ	chr14:65170674-65172313	IMR90	lung:	n/a	chr14:65170873-65170883 chr14:65170874-65170881 chr14:65170869-65170884 chr14:65170873-65170882
20	RCOR1	chr14:65170706-65171512	HepG2	liver:	n/a	n/a
21	CHD2	chr14:65170898-65171424	Hela-S3	cervix:	n/a	n/a
22	MXI1	chr14:65170555-65171559	H1-hESC	embryonic stem cell:	n/a	n/a
23	TAF1	chr14:65170848-65171335	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr14:65170867-65171463	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr14:65170694-65172055	MCF-7	breast:	n/a	n/a
26	MXI1	chr14:65170716-65171254	HepG2	liver:	n/a	n/a
27	SRF	chr14:65170826-65171372	ECC-1	luminal epithelium:	n/a	n/a
28	MAX	chr14:65170629-65172582	HepG2	liver:	n/a	chr14:65170873-65170883 chr14:65170874-65170881 chr14:65170869-65170884 chr14:65170873-65170882
29	POLR2A	chr14:65170857-65171492	MCF-7	breast:	n/a	n/a
30	HEY1	chr14:65170967-65171346	HepG2	liver:	n/a	n/a
31	HA-E2F1	chr14:65169675-65172166	MCF-7	breast:	n/a	chr14:65171866-65171881 chr14:65170968-65170978 chr14:65172102-65172109 chr14:65169782-65169791
32	SIN3AK20	chr14:65169607-65171579	HCT-116	colon:	n/a	n/a
33	POLR2A	chr14:65170633-65171741	SK-N-MC	brain:	n/a	n/a
34	E2F6	chr14:65170716-65172196	A549	lung:	n/a	chr14:65171866-65171881 chr14:65170968-65170978 chr14:65172102-65172109
35	ZKSCAN1	chr14:65170980-65171460	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr14:65170912-65171477	HUVEC	blood vessel:	n/a	n/a
37	USF1	chr14:65170758-65171046	A549	lung:	n/a	n/a
38	ZBTB7A	chr14:65170663-65172156	ECC-1	luminal epithelium:	n/a	n/a
39	FOXM1	chr14:65169581-65171381	ECC-1	luminal epithelium:	n/a	n/a
40	POLR2A	chr14:65170699-65171498	A549	lung:	n/a	n/a
41	POLR2A	chr14:65170841-65171079	MCF10A-Er-Src	breast:	n/a	n/a
42	E2F4	chr14:65170885-65172280	MCF10A-Er-Src	breast:	n/a	chr14:65171866-65171881 chr14:65170968-65170978 chr14:65172102-65172109
43	POLR2A	chr14:65170939-65171375	HUVEC	blood vessel:	n/a	n/a
44	MAX	chr14:65170677-65171377	SK-N-SH	brain:	n/a	chr14:65170873-65170883 chr14:65170874-65170881 chr14:65170869-65170884 chr14:65170873-65170882
45	ESR1	chr14:65170828-65171208	ECC-1	luminal epithelium:	n/a	n/a
46	NR2F2	chr14:65170570-65171844	MCF-7	breast:	n/a	n/a
47	MAX	chr14:65170439-65173969	A549	lung:	n/a	chr14:65173325-65173341 chr14:65170873-65170883 chr14:65170874-65170881 chr14:65170869-65170884 chr14:65170873-65170882
48	POLR2A	chr14:65170804-65171498	Hela-S3	cervix:	n/a	n/a
49	SIN3AK20	chr14:65170953-65172013	PANC-1	pancreas:	n/a	n/a
50	MAX	chr14:65170495-65172967	A549	lung:	n/a	chr14:65170873-65170883 chr14:65170874-65170881 chr14:65170869-65170884 chr14:65170873-65170882

No.	Distal block	Cell Line	Cell type
1	chr14:64968210..64972351-chr14:65168934..65172584,5	MCF-7	breast:
2	chr14:65168373..65176902-chr14:65220182..65231670,21	MCF-7	breast:
3	chr10:75910632..75911387-chr14:65170334..65171284,2	HCT-116	colon:
4	chr14:65168529..65178400-chr14:65179583..65195815,52	MCF-7	breast:
5	chr14:65170433..65175465-chr14:65207632..65214317,8	MCF-7	breast:
6	chr14:65168335..65178043-chr14:65220677..65234710,31	MCF-7	breast:
7	chr14:64968319..64971699-chr14:65168654..65172546,5	MCF-7	breast:
8	chr14:65170634..65173219-chr14:65206307..65208864,3	MCF-7	breast:

Variant related genes	Relation type
PLEKHG3	TF binding region
ENSG00000126804	Chromatin interaction
ENSG00000070182	Chromatin interaction
ENSG00000185009	Chromatin interaction
ENSG00000126822	Chromatin interaction
ENSG00000156110	Chromatin interaction
ENSG00000089775	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	nsv1049097	chr14:65027753-65202018	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv3437023	chr14:65170024-65173072	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65169200-65171200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr14:65169200-65172600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr14:65169400-65172600	Active TSS	H9 Cell Line	embryonic stem cell
4	chr14:65169600-65171200	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr14:65169600-65171400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
6	chr14:65169600-65172200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr14:65169800-65171200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
8	chr14:65169800-65172200	Active TSS	H1 Cell Line	embryonic stem cell
9	chr14:65169800-65172200	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr14:65169800-65172400	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr14:65169800-65172600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
12	chr14:65169800-65173600	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr14:65170000-65171200	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
14	chr14:65170000-65172600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr14:65170000-65176600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr14:65170200-65172200	Active TSS	Small Intestine	intestine
17	chr14:65170200-65172600	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr14:65170400-65172400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr14:65170400-65172400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr14:65170400-65172600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr14:65170400-65172800	Active TSS	Brain Cingulate Gyrus	brain
22	chr14:65170600-65171200	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
23	chr14:65170600-65171200	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
24	chr14:65170600-65171600	Flanking Bivalent TSS/Enh	Thymus	Thymus
25	chr14:65170600-65172000	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr14:65170600-65172200	Active TSS	Esophagus	oesophagus
27	chr14:65170600-65172400	Active TSS	Fetal Kidney	kidney
28	chr14:65170600-65172400	Active TSS	Ovary	ovary
29	chr14:65170600-65172600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr14:65170600-65172800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr14:65170600-65172800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr14:65170600-65173200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr14:65170600-65173400	Active TSS	Aorta	Aorta
34	chr14:65170800-65171200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr14:65170800-65171400	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr14:65170800-65171600	Bivalent/Poised TSS	Primary T helper naive cells from peripheral blood	blood
37	chr14:65170800-65171600	Bivalent/Poised TSS	Fetal Brain Female	brain
38	chr14:65170800-65171800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr14:65170800-65171800	Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr14:65170800-65171800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
41	chr14:65170800-65171800	Active TSS	Fetal Lung	lung
42	chr14:65170800-65171800	Active TSS	Placenta	Placenta
43	chr14:65170800-65172000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr14:65170800-65172000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
45	chr14:65170800-65172000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr14:65170800-65172000	Active TSS	Stomach Mucosa	stomach
47	chr14:65170800-65172000	Bivalent/Poised TSS	HepG2	liver
48	chr14:65170800-65172200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr14:65170800-65172200	Active TSS	A549	lung
50	chr14:65170800-65172200	Active TSS	HSMMtube	muscle

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