Variant report

Variant	rs368958888
Chromosome Location	chr14:56584391-56584392
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	CTCF	chr14:56584260-56584410	NHLF	lung:	n/a	n/a
2	E2F6	chr14:56584317-56584919	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAZ	chr14:56584116-56586945	IMR90	lung:	n/a	chr14:56585049-56585059 chr14:56584397-56584407 chr14:56585757-56585767
4	CTCF	chr14:56584360-56584510	HPF	lung:	n/a	n/a
5	CTCF	chr14:56584320-56584470	AG04450	lung:	n/a	n/a
6	JUN	chr14:56584305-56584483	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAX	chr14:56584358-56585450	A549	lung:	n/a	chr14:56585049-56585059 chr14:56584397-56584407
8	SIN3A	chr14:56584262-56585701	H1-hESC	embryonic stem cell:	n/a	chr14:56585591-56585604
9	TCF12	chr14:56584196-56584954	A549	lung:	n/a	chr14:56584854-56584863
10	CTCF	chr14:56584360-56584510	HCPEpiC	choroid plexus:	n/a	n/a
11	SMARCB1	chr14:56584322-56586220	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr14:56584340-56584490	A549	lung:	n/a	n/a
13	RAD21	chr14:56584331-56584813	H1-hESC	embryonic stem cell:	n/a	chr14:56584507-56584521
14	MXI1	chr14:56584118-56587663	IMR90	lung:	n/a	n/a
15	CTCF	chr14:56584320-56584470	BJ	skin:	n/a	n/a
16	TBP	chr14:56584386-56585340	H1-hESC	embryonic stem cell:	n/a	chr14:56584820-56584831
17	MAX	chr14:56584283-56584943	MCF-7	breast:	n/a	chr14:56584397-56584407
18	MAZ	chr14:56584369-56585754	K562	blood:	n/a	chr14:56585049-56585059 chr14:56584397-56584407
19	CTCF	chr14:56584380-56584630	AG09319	gingival:	n/a	n/a
20	CTCF	chr14:56584360-56584510	Caco-2	colon:	n/a	n/a
21	CTCF	chr14:56584300-56584450	BJ	skin:	n/a	n/a
22	REST	chr14:56584216-56586831	H1-neurons	neurons:	n/a	chr14:56585213-56585231 chr14:56586193-56586206 chr14:56585663-56585672
23	MAX	chr14:56584327-56584947	H1-hESC	embryonic stem cell:	n/a	chr14:56584397-56584407
24	MAX	chr14:56584372-56585346	A549	lung:	n/a	chr14:56585049-56585059 chr14:56584397-56584407
25	CTCF	chr14:56584300-56584450	HPAF	blood vessel:	n/a	n/a
26	RAD21	chr14:56584391-56586415	H1-hESC	embryonic stem cell:	n/a	chr14:56584507-56584521
27	CTCF	chr14:56584280-56584430	HRPEpiC	eye:	n/a	n/a
28	CTCF	chr14:56584280-56584430	RPTEC	kidney:	n/a	n/a
29	RAD21	chr14:56584329-56587290	IMR90	lung:	n/a	chr14:56584507-56584521
30	CTCF	chr14:56584340-56584490	AoAF	blood vessel:	n/a	n/a
31	CTCF	chr14:56584300-56584450	AG10803	skin:	n/a	n/a
32	CTCF	chr14:56584320-56584470	HCPEpiC	choroid plexus:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:56582513..56585426-chr14:56585434..56588675,3	K562	blood:

Variant related genes	Relation type
PELI2	TF binding region
ENSG00000139946	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533129	chr14:56568535-56819234	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv3401883	chr14:56584049-56586947	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv3343418	chr14:56584224-56586772	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56582200-56584600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr14:56582600-56584400	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr14:56582600-56584400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr14:56582600-56584600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr14:56583000-56584800	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr14:56583200-56584400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr14:56583200-56584800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr14:56583400-56584400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr14:56583400-56584400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:56583400-56584400	Weak transcription	Psoas Muscle	Psoas
11	chr14:56583400-56587600	Active TSS	Ovary	ovary
12	chr14:56583600-56584400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr14:56583600-56584400	Weak transcription	Gastric	stomach
14	chr14:56583600-56584400	Weak transcription	Lung	lung
15	chr14:56583600-56584400	Weak transcription	Pancreas	Pancrea
16	chr14:56583600-56584400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr14:56583800-56584400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr14:56583800-56584600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
19	chr14:56583800-56584800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr14:56583800-56587400	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr14:56584000-56584400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr14:56584000-56584400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr14:56584000-56584400	Enhancers	Placenta	Placenta
24	chr14:56584000-56584600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr14:56584000-56584600	Flanking Active TSS	Primary B cells from peripheral blood	blood
26	chr14:56584000-56584600	Flanking Active TSS	Fetal Brain Female	brain
27	chr14:56584000-56584800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr14:56584000-56584800	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr14:56584000-56584800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr14:56584000-56584800	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr14:56584000-56586200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr14:56584000-56586400	Active TSS	A549	lung
33	chr14:56584000-56586600	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr14:56584000-56586800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr14:56584000-56587000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr14:56584000-56587200	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr14:56584000-56587200	Active TSS	Stomach Smooth Muscle	stomach
38	chr14:56584000-56587400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr14:56584000-56587400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr14:56584000-56587600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr14:56584200-56584400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr14:56584200-56584400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr14:56584200-56584400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr14:56584200-56584400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr14:56584200-56584400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
46	chr14:56584200-56584400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr14:56584200-56584400	Active TSS	Brain Cingulate Gyrus	brain
48	chr14:56584200-56584400	Flanking Active TSS	Colon Smooth Muscle	Colon
49	chr14:56584200-56584400	Active TSS	Fetal Intestine Small	intestine
50	chr14:56584200-56584400	Active TSS	Fetal Muscle Trunk	muscle

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