Variant report

Variant	rs376436624
Chromosome Location	chr14:56584664-56584665
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:82)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:82 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr14:56584559-56584856	H1-hESC	embryonic stem cell:	n/a	n/a
2	E2F6	chr14:56584317-56584919	H1-hESC	embryonic stem cell:	n/a	n/a
3	TCF7L2	chr14:56584461-56584700	Hela-S3	cervix:	n/a	n/a
4	FOXA1	chr14:56584563-56585082	HepG2	liver:	n/a	n/a
5	FOXA2	chr14:56584492-56585193	A549	lung:	n/a	n/a
6	MAX	chr14:56584542-56584822	A549	lung:	n/a	n/a
7	MAZ	chr14:56584116-56586945	IMR90	lung:	n/a	chr14:56585049-56585059 chr14:56584397-56584407 chr14:56585757-56585767
8	SP1	chr14:56584411-56585033	A549	lung:	n/a	n/a
9	ZNF143	chr14:56584617-56584689	K562	blood:	n/a	n/a
10	FOXA1	chr14:56584632-56585088	HepG2	liver:	n/a	n/a
11	MAX	chr14:56584358-56585450	A549	lung:	n/a	chr14:56585049-56585059 chr14:56584397-56584407
12	BACH1	chr14:56584490-56585294	H1-hESC	embryonic stem cell:	n/a	n/a
13	SIN3A	chr14:56584262-56585701	H1-hESC	embryonic stem cell:	n/a	chr14:56585591-56585604
14	MAX	chr14:56584471-56585258	NB4	blood:	n/a	chr14:56585049-56585059
15	MAZ	chr14:56584644-56585259	GM12878	blood:	n/a	chr14:56585049-56585059
16	POLR2A	chr14:56584521-56585368	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAX	chr14:56584489-56584866	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr14:56584600-56584750	HUVEC	blood vessel:	n/a	n/a
19	POLR2A	chr14:56584487-56585339	Hela-S3	cervix:	n/a	n/a
20	TCF12	chr14:56584196-56584954	A549	lung:	n/a	chr14:56584854-56584863
21	CTCF	chr14:56584564-56584664	A549	lung:	n/a	n/a
22	UBTF	chr14:56584503-56585534	K562	blood:	n/a	n/a
23	POLR2A	chr14:56584635-56584772	MCF10A-Er-Src	breast:	n/a	n/a
24	SMARCB1	chr14:56584322-56586220	Hela-S3	cervix:	n/a	n/a
25	RCOR1	chr14:56584536-56585191	Hela-S3	cervix:	n/a	n/a
26	FOXA2	chr14:56584435-56585403	A549	lung:	n/a	n/a
27	SPI1	chr14:56584513-56584938	HL-60	blood:	n/a	chr14:56584650-56584657 chr14:56584647-56584660
28	RAD21	chr14:56584331-56584813	H1-hESC	embryonic stem cell:	n/a	chr14:56584507-56584521
29	MXI1	chr14:56584118-56587663	IMR90	lung:	n/a	n/a
30	MYC	chr14:56584646-56584792	MCF10A-Er-Src	breast:	n/a	n/a
31	CREB1	chr14:56584394-56585341	A549	lung:	n/a	n/a
32	FOXA1	chr14:56584657-56584979	T-47D	breast:	n/a	n/a
33	MAX	chr14:56584483-56584910	K562	blood:	n/a	n/a
34	MAX	chr14:56584577-56585311	Hela-S3	cervix:	n/a	chr14:56585049-56585059
35	TBP	chr14:56584386-56585340	H1-hESC	embryonic stem cell:	n/a	chr14:56584820-56584831
36	CTCF	chr14:56584520-56584670	BJ	skin:	n/a	n/a
37	E2F6	chr14:56584628-56584834	K562	blood:	n/a	n/a
38	E2F6	chr14:56584601-56584845	A549	lung:	n/a	n/a
39	MAX	chr14:56584283-56584943	MCF-7	breast:	n/a	chr14:56584397-56584407
40	MAZ	chr14:56584463-56585652	Hela-S3	cervix:	n/a	chr14:56585049-56585059
41	RCOR1	chr14:56584452-56585252	K562	blood:	n/a	n/a
42	MAX	chr14:56584499-56585399	ECC-1	luminal epithelium:	n/a	chr14:56585049-56585059
43	FOXA1	chr14:56584577-56584989	T-47D	breast:	n/a	n/a
44	MAZ	chr14:56584369-56585754	K562	blood:	n/a	chr14:56585049-56585059 chr14:56584397-56584407
45	POLR2A	chr14:56584545-56584737	Hela-S3	cervix:	n/a	n/a
46	GTF2F1	chr14:56584533-56584786	Hela-S3	cervix:	n/a	n/a
47	CTBP2	chr14:56584489-56586565	H1-hESC	embryonic stem cell:	n/a	n/a
48	REST	chr14:56584216-56586831	H1-neurons	neurons:	n/a	chr14:56585213-56585231 chr14:56586193-56586206 chr14:56585663-56585672
49	MAX	chr14:56584327-56584947	H1-hESC	embryonic stem cell:	n/a	chr14:56584397-56584407
50	MAX	chr14:56584372-56585346	A549	lung:	n/a	chr14:56585049-56585059 chr14:56584397-56584407

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:56584647-56584697	HAEpiC	amniotic membrane:	n/a
2	chr14:56584647-56584697	NH-A	brain:	n/a
3	chr14:56584647-56584697	SKMC	muscle:	n/a
4	chr14:56584647-56584697	HCM	heart:	n/a
5	chr14:56584647-56584697	GM12892	blood:	n/a
6	chr14:56584647-56584697	HMEC	breast:	n/a
7	chr14:56584647-56584697	PFSK-1	brain:	n/a
8	chr14:56584647-56584697	SAEC	small airway:	n/a
9	chr14:56584647-56584697	NHBE	bronchial:	n/a
10	chr14:56584647-56584697	HRCEpiC	kidney:	n/a
11	chr14:56584647-56584697	BJ	skin:	n/a
12	chr14:56584647-56584697	HNPCEpiC	eye:	n/a
13	chr14:56584647-56584697	BE2_C	brain:	n/a
14	chr14:56584647-56584697	H1-hESC	embryonic stem cell:	embryo
15	chr14:56584647-56584697	LNCaP	prostate:	n/a
16	chr14:56584647-56584697	HUVEC	blood vessel:	n/a
17	chr14:56584647-56584697	AG09319	gingival:	n/a
18	chr14:56584647-56584697	ECC-1	luminal epithelium:	n/a
19	chr14:56584647-56584697	NHDF-neo	bronchial:	n/a
20	chr14:56584647-56584697	Caco-2	colon:	n/a
21	chr14:56584647-56584697	AG09309	skin:	n/a
22	chr14:56584647-56584697	HIPEpiC	eye:	n/a
23	chr14:56584647-56584697	SK-N-SH_RA	brain:	n/a
24	chr14:56584647-56584697	HEEpiC	esophagus:	n/a
25	chr14:56584647-56584697	HL-60	blood:	n/a
26	chr14:56584647-56584697	A549	lung:	n/a
27	chr14:56584647-56584697	Hepatocyte	liver:	n/a
28	chr14:56584647-56584697	HCF	heart:	n/a
29	chr14:56584647-56584697	AG04450	lung:	fetal
30	chr14:56584647-56584697	GM06990	blood:	n/a
31	chr14:56584647-56584697	RPTEC	kidney:	n/a
32	chr14:56584647-56584697	AoSMC	blood vessel:	n/a
33	chr14:56584647-56584697	ovcar-3	ovarian:	n/a
34	chr14:56584647-56584697	IMR90	lung:	fetal
35	chr14:56584647-56584697	HepG2	liver:	n/a
36	chr14:56584647-56584697	HRE	kidney:	n/a
37	chr14:56584647-56584697	PrEC	prostate:	n/a
38	chr14:56584647-56584697	AG10803	skin:	n/a
39	chr14:56584647-56584697	MCF10A-Er-Src	breast:	n/a
40	chr14:56584647-56584697	HCPEpiC	choroid plexus:	n/a
41	chr14:56584647-56584697	AG04449	skin:	fetal
42	chr14:56584647-56584697	HPAEpiC	pulmonary alveolar:	n/a
43	chr14:56584647-56584697	U87	brain:	n/a
44	chr14:56584647-56584697	T-47D	breast:	n/a
45	chr14:56584647-56584697	SK-N-MC	brain:	n/a
46	chr14:56584647-56584697	HEK293	kidney:	embryo
47	chr14:56584647-56584697	SK-N-SH	brain:	n/a
48	chr14:56584647-56584697	CMK	blood:	n/a
49	chr14:56584647-56584697	ProgFib	skin:	n/a
50	chr14:56584647-56584697	Hela-S3	cervix:	n/a

(count:1 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
PELI2	TF binding region
PELI2	CpG island
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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56583000-56584800	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr14:56583200-56584800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr14:56583400-56587600	Active TSS	Ovary	ovary
4	chr14:56583800-56584800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr14:56583800-56587400	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr14:56584000-56584800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr14:56584000-56584800	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr14:56584000-56584800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr14:56584000-56584800	Flanking Active TSS	Duodenum Mucosa	Duodenum
10	chr14:56584000-56586200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr14:56584000-56586400	Active TSS	A549	lung
12	chr14:56584000-56586600	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr14:56584000-56586800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr14:56584000-56587000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr14:56584000-56587200	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr14:56584000-56587200	Active TSS	Stomach Smooth Muscle	stomach
17	chr14:56584000-56587400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr14:56584000-56587400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr14:56584000-56587600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr14:56584200-56584800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr14:56584200-56584800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr14:56584200-56584800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr14:56584200-56584800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr14:56584200-56584800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
25	chr14:56584200-56584800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr14:56584200-56584800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr14:56584200-56584800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr14:56584200-56584800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr14:56584200-56584800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr14:56584200-56584800	Flanking Active TSS	Liver	Liver
31	chr14:56584200-56584800	Flanking Active TSS	Fetal Brain Male	brain
32	chr14:56584200-56584800	Flanking Active TSS	Fetal Thymus	thymus
33	chr14:56584200-56584800	Flanking Active TSS	Dnd41	blood
34	chr14:56584200-56584800	Flanking Active TSS	HUVEC	blood vessel
35	chr14:56584200-56585400	Active TSS	Brain Germinal Matrix	brain
36	chr14:56584200-56585600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr14:56584200-56586000	Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr14:56584200-56586400	Active TSS	H1 Cell Line	embryonic stem cell
39	chr14:56584200-56586400	Active TSS	H9 Cell Line	embryonic stem cell
40	chr14:56584200-56586400	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr14:56584200-56586400	Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr14:56584200-56586400	Active TSS	Osteobl	bone
43	chr14:56584200-56586600	Active TSS	Thymus	Thymus
44	chr14:56584200-56586600	Active TSS	NH-A	brain
45	chr14:56584200-56586800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr14:56584200-56586800	Active TSS	Brain Anterior Caudate	brain
47	chr14:56584200-56586800	Active TSS	NHDF-Ad	bronchial
48	chr14:56584200-56586800	Active TSS	NHLF	lung
49	chr14:56584200-56587000	Active TSS	Brain Angular Gyrus	brain
50	chr14:56584200-56587000	Active TSS	Brain Inferior Temporal Lobe	brain

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