Variant report

Variant	rs559111245
Chromosome Location	chr14:70039220-70039221
allele	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	E2F6	chr14:70037838-70041874	H1-hESC	embryonic stem cell:	n/a	chr14:70039917-70039926 chr14:70040055-70040065 chr14:70039052-70039062 chr14:70039095-70039104 chr14:70039088-70039098 chr14:70039907-70039917 chr14:70038869-70038880 chr14:70041273-70041288 chr14:70041340-70041349 chr14:70039085-70039095
2	MAX	chr14:70038664-70039422	HepG2	liver:	n/a	chr14:70039385-70039392 chr14:70039384-70039393
3	MAX	chr14:70038645-70039534	MCF-7	breast:	n/a	chr14:70039385-70039392 chr14:70039384-70039393
4	E2F6	chr14:70038151-70039756	A549	lung:	n/a	chr14:70039052-70039062 chr14:70039095-70039104 chr14:70039088-70039098 chr14:70038869-70038880 chr14:70039085-70039095
5	MAX	chr14:70038055-70039799	H1-hESC	embryonic stem cell:	n/a	chr14:70038494-70038503 chr14:70039385-70039392 chr14:70039384-70039393 chr14:70039728-70039737 chr14:70038304-70038313 chr14:70038305-70038312
6	NFIC	chr14:70038434-70039623	ECC-1	luminal epithelium:	n/a	n/a
7	MAX	chr14:70038837-70039294	HepG2	liver:	n/a	n/a
8	YY1	chr14:70038633-70039237	HepG2	liver:	n/a	chr14:70039082-70039096 chr14:70039116-70039130 chr14:70039095-70039104 chr14:70038999-70039013 chr14:70038879-70038893 chr14:70039090-70039099 chr14:70039085-70039099
9	KAP1	chr14:70038694-70039403	HEK293	kidney:	n/a	n/a
10	E2F6	chr14:70038047-70039768	H1-hESC	embryonic stem cell:	n/a	chr14:70039052-70039062 chr14:70039095-70039104 chr14:70039088-70039098 chr14:70038869-70038880 chr14:70039085-70039095
11	MAX	chr14:70038248-70039406	H1-hESC	embryonic stem cell:	n/a	chr14:70038494-70038503 chr14:70039385-70039392 chr14:70039384-70039393 chr14:70038304-70038313 chr14:70038305-70038312
12	MAX	chr14:70038551-70039533	MCF-7	breast:	n/a	chr14:70039385-70039392 chr14:70039384-70039393
13	MAX	chr14:70038622-70039536	HepG2	liver:	n/a	chr14:70039385-70039392 chr14:70039384-70039393
14	SETDB1	chr14:70038763-70039510	K562	blood:	n/a	n/a
15	TEAD4	chr14:70038762-70039546	ECC-1	luminal epithelium:	n/a	n/a
16	FOS	chr14:70038872-70039291	HUVEC	blood vessel:	n/a	n/a
17	GTF2F1	chr14:70038370-70039388	H1-hESC	embryonic stem cell:	n/a	n/a
18	ZNF263	chr14:70038571-70039480	HEK293-T-REx	kidney:	n/a	n/a
19	HA-E2F1	chr14:70038587-70039423	MCF-7	breast:	n/a	chr14:70039052-70039062 chr14:70039095-70039104 chr14:70039088-70039098 chr14:70038869-70038880 chr14:70039085-70039095
20	NFIC	chr14:70038297-70039637	ECC-1	luminal epithelium:	n/a	n/a
21	MAX	chr14:70038147-70039969	A549	lung:	n/a	chr14:70038494-70038503 chr14:70039385-70039392 chr14:70039384-70039393 chr14:70039728-70039737 chr14:70038304-70038313 chr14:70038305-70038312
22	MYC	chr14:70038992-70039256	MCF-7	breast:	n/a	n/a
23	EP300	chr14:70038439-70039405	ECC-1	luminal epithelium:	n/a	chr14:70039010-70039026 chr14:70039001-70039017 chr14:70039088-70039097 chr14:70038671-70038687
24	MAX	chr14:70039164-70039569	HUVEC	blood vessel:	n/a	chr14:70039385-70039392 chr14:70039384-70039393
25	TCF12	chr14:70038272-70039602	ECC-1	luminal epithelium:	n/a	chr14:70038848-70038858 chr14:70038849-70038856
26	MAX	chr14:70038034-70039730	H1-hESC	embryonic stem cell:	n/a	chr14:70038494-70038503 chr14:70039385-70039392 chr14:70039384-70039393 chr14:70038304-70038313 chr14:70038305-70038312
27	CTCF	chr14:70039180-70039330	AG04449	skin:	n/a	chr14:70039271-70039284 chr14:70039283-70039296
28	MAX	chr14:70038221-70039565	A549	lung:	n/a	chr14:70038494-70038503 chr14:70039385-70039392 chr14:70039384-70039393 chr14:70038304-70038313 chr14:70038305-70038312
29	GABPA	chr14:70039041-70039653	H1-hESC	embryonic stem cell:	n/a	n/a
30	PAX5	chr14:70039160-70039550	GM12878	blood:	n/a	chr14:70039325-70039342 chr14:70039324-70039343
31	E2F6	chr14:70038912-70039341	K562	blood:	n/a	chr14:70039052-70039062 chr14:70039095-70039104 chr14:70039088-70039098 chr14:70039085-70039095
32	PAX5	chr14:70039017-70039453	GM12892	blood:	n/a	chr14:70039325-70039342 chr14:70039324-70039343
33	MAX	chr14:70039009-70039308	K562	blood:	n/a	n/a
34	SETDB1	chr14:70038823-70039398	U2OS	brain:	n/a	n/a
35	MAX	chr14:70038011-70039766	ECC-1	luminal epithelium:	n/a	chr14:70038494-70038503 chr14:70039385-70039392 chr14:70039384-70039393 chr14:70039728-70039737 chr14:70038304-70038313 chr14:70038305-70038312
36	MAX	chr14:70038054-70039747	ECC-1	luminal epithelium:	n/a	chr14:70038494-70038503 chr14:70039385-70039392 chr14:70039384-70039393 chr14:70039728-70039737 chr14:70038304-70038313 chr14:70038305-70038312

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:69949714..69952374-chr14:70039182..70041131,3	MCF-7	breast:
2	chr14:70037278..70041103-chr14:70232570..70234461,4	MCF-7	breast:

Variant related genes	Relation type
CCDC177	TF binding region
ENSG00000175985	Chromatin interaction
ENSG00000100650	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564970	chr14:70000399-70040161	Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv1825293	chr14:70020620-70039587	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
3	nsv565003	chr14:70035500-70041193	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
4	nsv565004	chr14:70035500-70041363	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
5	nsv1335	chr14:70036126-70062584	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	esv1824330	chr14:70037611-70042464	Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
9	esv20393	chr14:70038588-70041438	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
10	esv3339004	chr14:70038624-70041372	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70036600-70039600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:70036600-70040200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr14:70037200-70039600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr14:70037400-70039600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:70037400-70040200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
6	chr14:70037600-70039600	Bivalent Enhancer	Placenta	Placenta
7	chr14:70037800-70039600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:70037800-70040200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:70037800-70040400	Enhancers	Fetal Brain Male	brain
10	chr14:70038000-70039600	Bivalent Enhancer	Fetal Heart	heart
11	chr14:70038000-70040400	Enhancers	Liver	Liver
12	chr14:70038000-70040400	Weak transcription	Brain Angular Gyrus	brain
13	chr14:70038000-70040400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
14	chr14:70038000-70040400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr14:70038200-70039400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr14:70038200-70039400	Bivalent/Poised TSS	HSMMtube	muscle
17	chr14:70038200-70039600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
18	chr14:70038200-70039600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr14:70038200-70039600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr14:70038200-70039600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr14:70038200-70039600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
22	chr14:70038200-70040600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
23	chr14:70038200-70040600	Bivalent Enhancer	Stomach Mucosa	stomach
24	chr14:70038200-70040800	Flanking Bivalent TSS/Enh	Right Ventricle	heart
25	chr14:70038200-70040800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
26	chr14:70038400-70039400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
27	chr14:70038400-70039400	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr14:70038400-70039400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
29	chr14:70038400-70039600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr14:70038400-70039600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr14:70038400-70039600	ZNF genes & repeats	Brain Germinal Matrix	brain
32	chr14:70038400-70039600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
33	chr14:70038400-70039600	Flanking Active TSS	Right Atrium	heart
34	chr14:70038400-70039800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
35	chr14:70038400-70039800	Strong transcription	Fetal Brain Female	brain
36	chr14:70038400-70040000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr14:70038400-70040800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr14:70038600-70039400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
39	chr14:70038600-70039400	Active TSS	Aorta	Aorta
40	chr14:70038600-70039400	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
41	chr14:70038600-70039400	Flanking Active TSS	Pancreas	Pancrea
42	chr14:70038600-70039600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr14:70038600-70039600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
44	chr14:70038600-70039600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
45	chr14:70038600-70039600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr14:70038600-70039600	Bivalent/Poised TSS	A549	lung
47	chr14:70038600-70040000	Bivalent/Poised TSS	HSMM	muscle
48	chr14:70038600-70040200	Bivalent/Poised TSS	HepG2	liver
49	chr14:70038800-70039400	Flanking Active TSS	Gastric	stomach
50	chr14:70038800-70039400	Flanking Bivalent TSS/Enh	Lung	lung

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