Variant report

Variant	rs2173557
Chromosome Location	chr14:65293809-65293810
allele	A/C
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	CTCF	chr14:65293700-65293850	NB4	blood:	n/a	n/a
2	CTCF	chr14:65293797-65293894	K562	blood:	n/a	n/a
3	RAD21	chr14:65293734-65293916	HepG2	liver:	n/a	n/a
4	RAD21	chr14:65293805-65293865	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr14:65293534-65293838	Hela-S3	cervix:	n/a	chr14:65293680-65293691 chr14:65293677-65293694 chr14:65293680-65293693
6	CTCF	chr14:65293760-65293910	HepG2	liver:	n/a	n/a
7	CEBPB	chr14:65293530-65293866	HepG2	liver:	n/a	chr14:65293680-65293691 chr14:65293677-65293694 chr14:65293680-65293693
8	CTCF	chr14:65293720-65293870	WERI-Rb-1	eye:	n/a	n/a
9	CTCF	chr14:65293740-65293890	GM06990	blood:	n/a	n/a
10	CTCF	chr14:65293740-65293890	HEK293	kidney:	n/a	n/a
11	CTCF	chr14:65293740-65293890	GM12873	blood:	n/a	n/a
12	CEBPB	chr14:65293535-65293871	IMR90	lung:	n/a	chr14:65293680-65293691 chr14:65293677-65293694 chr14:65293680-65293693
13	CTCF	chr14:65293740-65293890	NHEK	skin:	n/a	n/a
14	CEBPB	chr14:65293497-65293887	HepG2	liver:	n/a	chr14:65293680-65293691 chr14:65293677-65293694 chr14:65293680-65293693
15	MYC	chr14:65293488-65294001	NB4	blood:	n/a	n/a
16	CTCF	chr14:65293800-65293950	HL-60	blood:	n/a	chr14:65293929-65293937
17	MAX	chr14:65293449-65293920	NB4	blood:	n/a	n/a
18	CTCF	chr14:65293760-65293910	HBMEC	blood vessel:	n/a	n/a
19	CEBPB	chr14:65293526-65293856	A549	lung:	n/a	chr14:65293680-65293691 chr14:65293677-65293694 chr14:65293680-65293693
20	FOS	chr14:65293640-65293812	MCF10A-Er-Src	breast:	n/a	n/a
21	CEBPB	chr14:65293605-65293850	K562	blood:	n/a	chr14:65293680-65293691 chr14:65293677-65293694 chr14:65293680-65293693
22	CTCF	chr14:65293782-65293876	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr14:65293760-65293910	HCPEpiC	choroid plexus:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:65292806..65294669-chr14:65341697..65343912,2	K562	blood:
2	chr14:65293069..65296062-chr14:65321540..65323696,2	K562	blood:
3	chr14:65293736..65296089-chr14:65308632..65311499,2	K562	blood:
4	chr14:65290998..65293836-chr14:65307900..65310163,2	K562	blood:
5	chr14:65228221..65230600-chr14:65293367..65295100,2	MCF-7	breast:

Variant related genes	Relation type
SPTB	TF binding region
ENSG00000070182	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	esv3693408	chr14:65292670-65358576	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65289800-65295200	Enhancers	Left Ventricle	heart
2	chr14:65290000-65295200	Enhancers	Psoas Muscle	Psoas
3	chr14:65290600-65294400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr14:65291000-65295600	Enhancers	Fetal Muscle Leg	muscle
5	chr14:65291600-65296000	Enhancers	K562	blood
6	chr14:65292000-65297800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr14:65292400-65294800	Enhancers	Fetal Muscle Trunk	muscle
8	chr14:65292600-65297800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:65292800-65294000	Enhancers	Right Atrium	heart
10	chr14:65292800-65294000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr14:65292800-65294000	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr14:65292800-65295000	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr14:65293000-65294800	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr14:65293000-65294800	Weak transcription	Right Ventricle	heart
15	chr14:65293600-65294600	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr14:65293600-65295600	Enhancers	HSMMtube	muscle
17	chr14:65293600-65297400	Weak transcription	Fetal Heart	heart
18	chr14:65293800-65294400	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr14:65293800-65294400	Weak transcription	HMEC	breast

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