Variant report

Variant	rs545624488
Chromosome Location	chr14:71108010-71108011
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	FOXP2	chr14:71107863-71108111	PFSK-1	brain:	n/a	n/a
2	REST	chr14:71107678-71110030	H1-neurons	neurons:	n/a	chr14:71109567-71109577 chr14:71108389-71108402 chr14:71109918-71109931
3	STAT1	chr14:71107829-71108120	GM12878	blood:	n/a	n/a
4	MAX	chr14:71107792-71108628	Hela-S3	cervix:	n/a	chr14:71108554-71108564
5	POLR2A	chr14:71107764-71108910	H1-neurons	neurons:	n/a	n/a
6	POLR2A	chr14:71107408-71111056	GM12878	blood:	n/a	n/a
7	CTCF	chr14:71107635-71108059	GM19238	blood:	n/a	n/a
8	STAT5A	chr14:71107490-71108595	GM12878	blood:	n/a	n/a
9	POLR2A	chr14:71107855-71108109	HCT-116	colon:	n/a	n/a
10	MAX	chr14:71107599-71108732	MCF-7	breast:	n/a	chr14:71108554-71108564
11	RFX5	chr14:71107977-71108168	Hela-S3	cervix:	n/a	n/a
12	WRNIP1	chr14:71107235-71108216	GM12878	blood:	n/a	n/a
13	POLR2A	chr14:71107519-71111057	GM19099	blood:	n/a	n/a
14	STAT5A	chr14:71107600-71108143	GM12878	blood:	n/a	n/a
15	POLR2A	chr14:71107463-71108449	GM12892	blood:	n/a	n/a
16	POLR2A	chr14:71107559-71110560	GM18505	blood:	n/a	n/a
17	POLR2A	chr14:71107553-71109837	GM12892	blood:	n/a	n/a
18	FOS	chr14:71107864-71108143	MCF10A-Er-Src	breast:	n/a	n/a
19	BCLAF1	chr14:71107473-71108266	GM12878	blood:	n/a	n/a
20	POLR2A	chr14:71107780-71108327	GM12878	blood:	n/a	n/a
21	TCF12	chr14:71107547-71108151	GM12878	blood:	n/a	n/a
22	POLR2A	chr14:71107578-71110550	GM18526	blood:	n/a	n/a
23	TAF1	chr14:71107981-71108797	H1-neurons	neurons:	n/a	n/a
24	USF2	chr14:71107656-71108103	GM12878	blood:	n/a	n/a
25	POLR2A	chr14:71107586-71110556	GM18951	blood:	n/a	n/a
26	CTCF	chr14:71107860-71108010	GM12871	blood:	n/a	n/a
27	EP300	chr14:71107832-71108099	GM12878	blood:	n/a	n/a
28	MYC	chr14:71107844-71108360	MCF-7	breast:	n/a	n/a
29	RAD21	chr14:71107613-71108156	GM12878	blood:	n/a	n/a
30	MAZ	chr14:71107587-71108741	GM12878	blood:	n/a	chr14:71108554-71108564
31	ZNF263	chr14:71107628-71109987	HEK293-T-REx	kidney:	n/a	n/a
32	CTCF	chr14:71107932-71108122	GM12891	blood:	n/a	n/a
33	TCF12	chr14:71107649-71108394	A549	lung:	n/a	chr14:71108228-71108235
34	TCF7L2	chr14:71107665-71109225	HCT-116	colon:	n/a	n/a
35	SMC3	chr14:71107834-71108213	Hela-S3	cervix:	n/a	n/a
36	MYC	chr14:71107894-71108081	MCF-7	breast:	n/a	n/a
37	CHD1	chr14:71107960-71108648	GM12878	blood:	n/a	chr14:71108359-71108369
38	RUNX3	chr14:71107559-71108607	GM12878	blood:	n/a	n/a
39	POLR2A	chr14:71107571-71110585	GM15510	blood:	n/a	n/a
40	MAX	chr14:71107731-71108579	ECC-1	luminal epithelium:	n/a	chr14:71108554-71108564
41	RCOR1	chr14:71107824-71108295	Hela-S3	cervix:	n/a	n/a
42	MTA3	chr14:71107387-71108680	GM12878	blood:	n/a	n/a
43	ELF1	chr14:71107572-71109827	GM12878	blood:	n/a	chr14:71108549-71108561 chr14:71109566-71109578 chr14:71108276-71108285
44	MAX	chr14:71107854-71108770	A549	lung:	n/a	chr14:71108554-71108564
45	POLR2A	chr14:71107718-71108919	H1-neurons	neurons:	n/a	n/a
46	YY1	chr14:71107609-71108229	GM12878	blood:	n/a	n/a
47	ZEB1	chr14:71107451-71108716	GM12878	blood:	n/a	n/a
48	POLR2A	chr14:71107873-71108788	GM12878	blood:	n/a	n/a
49	TAF1	chr14:71107858-71108787	H1-neurons	neurons:	n/a	n/a
50	PBX3	chr14:71107810-71108085	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	chr14:71107053..71109506-chr14:71274783..71276528,2	MCF-7	breast:
3	chr14:71107179..71108861-chr14:71164830..71167487,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MED6-1	chr14:71107725-71108015	ENSG00000245466

Variant related genes	Relation type
ENSG00000259115	TF binding region
TTC9	TF binding region
ENSG00000259153	Chromatin interaction
ENSG00000006432	Chromatin interaction
ENSG00000258689	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71107200-71108200	Flanking Active TSS	Primary hematopoietic stem cells	blood
2	chr14:71107200-71108200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
3	chr14:71107200-71108400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr14:71107200-71110200	Active TSS	H1 Cell Line	embryonic stem cell
5	chr14:71107200-71111200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr14:71107200-71111400	Active TSS	H9 Cell Line	embryonic stem cell
7	chr14:71107400-71108200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
8	chr14:71107400-71108200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
9	chr14:71107400-71108200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr14:71107400-71108200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr14:71107400-71108200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
12	chr14:71107400-71108200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr14:71107400-71108200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr14:71107400-71108200	Flanking Active TSS	Thymus	Thymus
15	chr14:71107400-71108200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
16	chr14:71107400-71109000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
17	chr14:71107400-71110000	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr14:71107400-71110200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr14:71107400-71110200	Active TSS	Psoas Muscle	Psoas
20	chr14:71107600-71108200	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:71107600-71108200	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr14:71107600-71108200	Active TSS	Primary T killer memory cells from peripheral blood	blood
23	chr14:71107600-71108200	Flanking Active TSS	Esophagus	oesophagus
24	chr14:71107600-71108200	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
25	chr14:71107600-71108200	Flanking Active TSS	Pancreas	Pancrea
26	chr14:71107600-71108200	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
27	chr14:71107600-71108200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
28	chr14:71107600-71108200	Flanking Bivalent TSS/Enh	NHEK	skin
29	chr14:71107600-71108400	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
30	chr14:71107600-71108400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr14:71107600-71108400	Flanking Bivalent TSS/Enh	Dnd41	blood
32	chr14:71107600-71109000	Active TSS	Brain Anterior Caudate	brain
33	chr14:71107600-71109000	Active TSS	Colon Smooth Muscle	Colon
34	chr14:71107600-71109400	Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr14:71107600-71109600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr14:71107600-71109600	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr14:71107600-71109600	Active TSS	Right Atrium	heart
38	chr14:71107600-71109800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
39	chr14:71107600-71110200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr14:71107600-71110400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
41	chr14:71107800-71108200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr14:71107800-71108200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr14:71107800-71108200	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr14:71107800-71108200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr14:71107800-71108200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr14:71107800-71108200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr14:71107800-71108200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr14:71107800-71108200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr14:71107800-71108200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr14:71107800-71108200	Bivalent/Poised TSS	Brain Substantia Nigra	brain

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