Variant report

Variant	rs566306353
Chromosome Location	chr14:66976810-66976811
allele	C/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	REST	chr14:66976579-66977025	HCT-116	colon:	n/a	n/a
2	SIN3AK20	chr14:66976638-66976865	H1-hESC	embryonic stem cell:	n/a	n/a
3	REST	chr14:66976590-66977017	PANC-1	pancreas:	n/a	n/a
4	SPI1	chr14:66976704-66976847	GM12878	blood:	n/a	n/a
5	REST	chr14:66976612-66976984	PFSK-1	brain:	n/a	n/a
6	REST	chr14:66976565-66977011	H1-hESC	embryonic stem cell:	n/a	n/a
7	SPI1	chr14:66976666-66976963	GM12891	blood:	n/a	n/a
8	REST	chr14:66976650-66976923	A549	lung:	n/a	n/a
9	SIN3A	chr14:66974072-66976966	GM12878	blood:	n/a	chr14:66976874-66976883 chr14:66975342-66975355 chr14:66974495-66974509
10	REST	chr14:66976423-66977037	A549	lung:	n/a	n/a
11	REST	chr14:66976578-66976989	HepG2	liver:	n/a	n/a
12	REST	chr14:66973750-66977091	H1-neurons	neurons:	n/a	chr14:66974498-66974508 chr14:66975342-66975351 chr14:66975591-66975604 chr14:66975342-66975355 chr14:66974496-66974510 chr14:66975615-66975628 chr14:66974699-66974719 chr14:66975920-66975940 chr14:66975573-66975586 chr14:66974723-66974736 chr14:66974502-66974515 chr14:66975671-66975684
13	REST	chr14:66976578-66976940	SK-N-SH	brain:	n/a	n/a
14	REST	chr14:66976578-66976974	HepG2	liver:	n/a	n/a
15	SPI1	chr14:66976620-66976995	HL-60	blood:	n/a	n/a
16	REST	chr14:66976726-66976937	GM12878	blood:	n/a	n/a
17	MXI1	chr14:66973689-66977167	SK-N-SH	brain:	n/a	n/a
18	REST	chr14:66976523-66976960	Hela-S3	cervix:	n/a	n/a
19	MXI1	chr14:66973758-66976994	IMR90	lung:	n/a	n/a
20	BHLHE40	chr14:66973863-66976828	GM12878	blood:	n/a	chr14:66974231-66974244 chr14:66975578-66975594
21	SPI1	chr14:66976649-66976920	GM12891	blood:	n/a	n/a
22	REST	chr14:66976587-66976993	MCF-7	breast:	n/a	n/a
23	REST	chr14:66976586-66976922	PANC-1	pancreas:	n/a	n/a
24	REST	chr14:66976693-66976937	K562	blood:	n/a	n/a
25	REST	chr14:66976587-66976983	U87	brain:	n/a	n/a
26	REST	chr14:66976455-66977277	ECC-1	luminal epithelium:	n/a	n/a
27	REST	chr14:66976418-66977062	Hela-S3	cervix:	n/a	n/a
28	REST	chr14:66976643-66976942	SK-N-SH	brain:	n/a	n/a
29	REST	chr14:66976513-66977005	GM12878	blood:	n/a	n/a
30	REST	chr14:66976642-66976900	GM12878	blood:	n/a	n/a
31	SPI1	chr14:66976734-66976854	K562	blood:	n/a	n/a
32	EBF1	chr14:66975318-66976991	GM12878	blood:	n/a	chr14:66975870-66975881 chr14:66975568-66975577 chr14:66975568-66975577
33	SIN3A	chr14:66974025-66976991	H1-hESC	embryonic stem cell:	n/a	chr14:66976874-66976883 chr14:66975342-66975355 chr14:66974495-66974509
34	REST	chr14:66975644-66977297	HL-60	blood:	n/a	chr14:66975920-66975940 chr14:66975671-66975684
35	REST	chr14:66976744-66976900	HepG2	liver:	n/a	n/a
36	REST	chr14:66976571-66977015	HL-60	blood:	n/a	n/a
37	REST	chr14:66976726-66976908	SK-N-SH	brain:	n/a	n/a
38	MXI1	chr14:66973885-66976972	GM12878	blood:	n/a	n/a
39	REST	chr14:66976692-66976947	GM12878	blood:	n/a	n/a
40	REST	chr14:66976493-66977102	ECC-1	luminal epithelium:	n/a	n/a
41	REST	chr14:66976615-66977025	H1-hESC	embryonic stem cell:	n/a	n/a
42	REST	chr14:66976739-66976882	HepG2	liver:	n/a	n/a
43	REST	chr14:66976681-66976952	PFSK-1	brain:	n/a	n/a
44	REST	chr14:66976562-66976931	K562	blood:	n/a	n/a
45	REST	chr14:66976477-66977101	MCF-7	breast:	n/a	n/a
46	ZNF143	chr14:66976630-66976953	GM12878	blood:	n/a	n/a
47	ZNF384	chr14:66976281-66976905	GM12878	blood:	n/a	n/a
48	SPI1	chr14:66976639-66976905	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:66958930..66964157-chr14:66971787..66977680,8	K562	blood:

Variant related genes	Relation type
ENSG00000258561	TF binding region
ENSG00000258561	Chromatin interaction
ENSG00000196553	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817409	chr14:66220075-66990168	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv564953	chr14:66287921-67046960	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
3	nsv1050485	chr14:66308283-67109270	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	nsv530775	chr14:66316836-67079049	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv530793	chr14:66317036-67078908	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	esv3385263	chr14:66514718-67511481	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv983837	chr14:66619600-67014519	Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv933275	chr14:66649843-67024881	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv525460	chr14:66851185-67626594	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
10	esv2755038	chr14:66869437-67041440	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv933170	chr14:66945507-67094868	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	esv2755473	chr14:66962747-67177647	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	nsv902027	chr14:66975857-67059231	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66973600-66977800	Active TSS	GM12878-XiMat	blood
2	chr14:66973800-66977000	Active TSS	Fetal Brain Female	brain
3	chr14:66974200-66977400	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr14:66975200-66977000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr14:66976000-66977000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr14:66976200-66977000	Flanking Active TSS	Duodenum Mucosa	Duodenum
7	chr14:66976200-66977000	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr14:66976200-66977000	Active TSS	Stomach Smooth Muscle	stomach
9	chr14:66976200-66977600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr14:66976400-66977000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
11	chr14:66976400-66977000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr14:66976400-66977000	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr14:66976400-66977000	Flanking Active TSS	Brain Angular Gyrus	brain
14	chr14:66976400-66977000	Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr14:66976400-66977000	Enhancers	Stomach Mucosa	stomach
16	chr14:66976400-66977400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr14:66976400-66977600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr14:66976400-66980400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr14:66976600-66977000	Active TSS	Primary hematopoietic stem cells	blood
20	chr14:66976600-66977000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr14:66976600-66977000	Flanking Active TSS	Brain Anterior Caudate	brain
22	chr14:66976600-66977000	Flanking Active TSS	Brain Cingulate Gyrus	brain
23	chr14:66976600-66977000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr14:66976600-66977000	Flanking Active TSS	Fetal Kidney	kidney
25	chr14:66976600-66977000	Enhancers	Fetal Lung	lung
26	chr14:66976600-66977000	Enhancers	Small Intestine	intestine
27	chr14:66976600-66977000	Flanking Active TSS	Hela-S3	cervix
28	chr14:66976600-66977200	Flanking Active TSS	Fetal Brain Male	brain
29	chr14:66976600-66977200	Enhancers	Fetal Heart	heart
30	chr14:66976600-66977200	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr14:66976600-66977400	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr14:66976600-66977600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr14:66976600-66977800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr14:66976600-66977800	Flanking Active TSS	Liver	Liver
35	chr14:66976600-66977800	Enhancers	Colon Smooth Muscle	Colon
36	chr14:66976600-66978200	Weak transcription	NHDF-Ad	bronchial
37	chr14:66976600-66980400	Enhancers	Dnd41	blood
38	chr14:66976600-66989800	Weak transcription	Aorta	Aorta
39	chr14:66976800-66977000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr14:66976800-66977000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
41	chr14:66976800-66977000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr14:66976800-66977000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr14:66976800-66977000	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr14:66976800-66977000	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr14:66976800-66977000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr14:66976800-66977000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr14:66976800-66977000	Enhancers	Muscle Satellite Cultured Cells	--
48	chr14:66976800-66977000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr14:66976800-66977000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr14:66976800-66977000	Enhancers	Brain Germinal Matrix	brain

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