Variant report

Variant	rs565699175
Chromosome Location	chr14:71107669-71107670
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	POLR2A	chr14:71107408-71111056	GM12878	blood:	n/a	n/a
2	CTCF	chr14:71107635-71108059	GM19238	blood:	n/a	n/a
3	STAT5A	chr14:71107490-71108595	GM12878	blood:	n/a	n/a
4	MAX	chr14:71107599-71108732	MCF-7	breast:	n/a	chr14:71108554-71108564
5	WRNIP1	chr14:71107235-71108216	GM12878	blood:	n/a	n/a
6	POLR2A	chr14:71107519-71111057	GM19099	blood:	n/a	n/a
7	STAT5A	chr14:71107600-71108143	GM12878	blood:	n/a	n/a
8	POLR2A	chr14:71107463-71108449	GM12892	blood:	n/a	n/a
9	POLR2A	chr14:71107559-71110560	GM18505	blood:	n/a	n/a
10	POLR2A	chr14:71107553-71109837	GM12892	blood:	n/a	n/a
11	BCLAF1	chr14:71107473-71108266	GM12878	blood:	n/a	n/a
12	TCF12	chr14:71107547-71108151	GM12878	blood:	n/a	n/a
13	POLR2A	chr14:71107578-71110550	GM18526	blood:	n/a	n/a
14	USF2	chr14:71107656-71108103	GM12878	blood:	n/a	n/a
15	POLR2A	chr14:71107586-71110556	GM18951	blood:	n/a	n/a
16	RAD21	chr14:71107613-71108156	GM12878	blood:	n/a	n/a
17	MAZ	chr14:71107587-71108741	GM12878	blood:	n/a	chr14:71108554-71108564
18	CTCF	chr14:71107664-71107779	MCF-7	breast:	n/a	n/a
19	ZNF263	chr14:71107628-71109987	HEK293-T-REx	kidney:	n/a	n/a
20	TCF12	chr14:71107649-71108394	A549	lung:	n/a	chr14:71108228-71108235
21	TCF7L2	chr14:71107665-71109225	HCT-116	colon:	n/a	n/a
22	CTCF	chr14:71107640-71107790	Caco-2	colon:	n/a	n/a
23	RUNX3	chr14:71107559-71108607	GM12878	blood:	n/a	n/a
24	POLR2A	chr14:71107571-71110585	GM15510	blood:	n/a	n/a
25	MTA3	chr14:71107387-71108680	GM12878	blood:	n/a	n/a
26	ELF1	chr14:71107572-71109827	GM12878	blood:	n/a	chr14:71108549-71108561 chr14:71109566-71109578 chr14:71108276-71108285
27	CTCF	chr14:71107640-71107790	HEK293	kidney:	n/a	n/a
28	CTCF	chr14:71107649-71107828	GM19240	blood:	n/a	n/a
29	YY1	chr14:71107609-71108229	GM12878	blood:	n/a	n/a
30	ZEB1	chr14:71107451-71108716	GM12878	blood:	n/a	n/a
31	CTCF	chr14:71107620-71107770	GM06990	blood:	n/a	n/a
32	MAX	chr14:71107651-71108324	GM12878	blood:	n/a	n/a
33	NRF1	chr14:71107485-71108398	GM12878	blood:	n/a	chr14:71108204-71108215 chr14:71108201-71108215
34	POLR2A	chr14:71107586-71109748	GM12878	blood:	n/a	n/a
35	RELA	chr14:71107489-71108351	GM19099	blood:	n/a	n/a
36	CTCF	chr14:71107640-71107790	WERI-Rb-1	eye:	n/a	n/a
37	ATF2	chr14:71107518-71108251	GM12878	blood:	n/a	n/a
38	CTCF	chr14:71107620-71107770	GM12873	blood:	n/a	n/a
39	RUNX3	chr14:71107376-71108384	GM12878	blood:	n/a	n/a
40	FOXM1	chr14:71107608-71108187	GM12878	blood:	n/a	n/a
41	TCF12	chr14:71107618-71108198	GM12878	blood:	n/a	n/a
42	CTCF	chr14:71107660-71107810	GM12873	blood:	n/a	n/a
43	CTCF	chr14:71107560-71107710	GM12875	blood:	n/a	n/a
44	TCF3	chr14:71107512-71108251	GM12878	blood:	n/a	n/a
45	POLR2A	chr14:71107613-71110518	GM19193	blood:	n/a	n/a
46	HDAC2	chr14:71107403-71108790	MCF-7	breast:	n/a	n/a
47	CTCF	chr14:71107645-71107808	GM12891	blood:	n/a	n/a
48	CHD1	chr14:71107405-71107760	GM12878	blood:	n/a	n/a
49	CTCF	chr14:71107660-71107910	GM12867	blood:	n/a	n/a
50	RCOR1	chr14:71107412-71108297	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:71106760..71110006-chr14:71274602..71279359,4	MCF-7	breast:
2	chr14:71105872..71107697-chr14:71129081..71131202,2	MCF-7	breast:
3	chr14:71107053..71109506-chr14:71274783..71276528,2	MCF-7	breast:
4	chr14:71107179..71108861-chr14:71164830..71167487,3	MCF-7	breast:

Variant related genes	Relation type
TTC9	TF binding region
ENSG00000259153	Chromatin interaction
ENSG00000258689	Chromatin interaction
ENSG00000006432	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3409289	chr14:71107224-71110172	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71106800-71107800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
2	chr14:71107000-71107800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
3	chr14:71107000-71108000	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr14:71107000-71108000	Flanking Active TSS	Primary T cells from cord blood	blood
5	chr14:71107000-71108000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
6	chr14:71107000-71108000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
7	chr14:71107200-71107800	Bivalent Enhancer	Fetal Muscle Leg	muscle
8	chr14:71107200-71107800	Enhancers	Spleen	Spleen
9	chr14:71107200-71107800	Flanking Active TSS	GM12878-XiMat	blood
10	chr14:71107200-71108000	Flanking Active TSS	Primary B cells from peripheral blood	blood
11	chr14:71107200-71108000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
12	chr14:71107200-71108000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr14:71107200-71108000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
14	chr14:71107200-71108200	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr14:71107200-71108200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr14:71107200-71108400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr14:71107200-71110200	Active TSS	H1 Cell Line	embryonic stem cell
18	chr14:71107200-71111200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr14:71107200-71111400	Active TSS	H9 Cell Line	embryonic stem cell
20	chr14:71107400-71107800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr14:71107400-71107800	Enhancers	Fetal Brain Male	brain
22	chr14:71107400-71107800	Enhancers	HMEC	breast
23	chr14:71107400-71107800	Flanking Active TSS	HSMMtube	muscle
24	chr14:71107400-71108000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
25	chr14:71107400-71108000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
26	chr14:71107400-71108000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
27	chr14:71107400-71108000	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
28	chr14:71107400-71108200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr14:71107400-71108200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
30	chr14:71107400-71108200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr14:71107400-71108200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr14:71107400-71108200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
33	chr14:71107400-71108200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr14:71107400-71108200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr14:71107400-71108200	Flanking Active TSS	Thymus	Thymus
36	chr14:71107400-71108200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
37	chr14:71107400-71109000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
38	chr14:71107400-71110000	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr14:71107400-71110200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr14:71107400-71110200	Active TSS	Psoas Muscle	Psoas
41	chr14:71107600-71107800	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
42	chr14:71107600-71107800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr14:71107600-71107800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr14:71107600-71107800	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr14:71107600-71107800	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr14:71107600-71107800	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr14:71107600-71107800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
48	chr14:71107600-71107800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr14:71107600-71107800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr14:71107600-71107800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain

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