Variant report

Variant	rs554934622
Chromosome Location	chr14:56584917-56584918
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	chr14:56584317-56584919	H1-hESC	embryonic stem cell:	n/a	n/a
2	FOXA1	chr14:56584563-56585082	HepG2	liver:	n/a	n/a
3	FOXA2	chr14:56584492-56585193	A549	lung:	n/a	n/a
4	MAZ	chr14:56584116-56586945	IMR90	lung:	n/a	chr14:56585049-56585059 chr14:56584397-56584407 chr14:56585757-56585767
5	POLR2A	chr14:56584902-56585498	H1-hESC	embryonic stem cell:	n/a	n/a
6	EGR1	chr14:56584698-56585200	K562	blood:	n/a	chr14:56585014-56585028
7	SP1	chr14:56584411-56585033	A549	lung:	n/a	n/a
8	FOXA1	chr14:56584632-56585088	HepG2	liver:	n/a	n/a
9	EGR1	chr14:56584681-56585220	ECC-1	luminal epithelium:	n/a	chr14:56585014-56585028
10	POLR2A	chr14:56584669-56584953	H1-neurons	neurons:	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	FOXP2	chr14:56584870-56585340	PFSK-1	brain:	n/a	n/a
18	POLR2A	chr14:56584487-56585339	Hela-S3	cervix:	n/a	n/a
19	TCF12	chr14:56584196-56584954	A549	lung:	n/a	chr14:56584854-56584863
20	POLR2A	chr14:56584889-56585849	HUVEC	blood vessel:	n/a	n/a
21	ZBTB7A	chr14:56584753-56585206	K562	blood:	n/a	n/a
22	UBTF	chr14:56584503-56585534	K562	blood:	n/a	n/a
23	SMARCB1	chr14:56584322-56586220	Hela-S3	cervix:	n/a	n/a
24	RCOR1	chr14:56584536-56585191	Hela-S3	cervix:	n/a	n/a
25	FOXA2	chr14:56584435-56585403	A549	lung:	n/a	n/a
26	SPI1	chr14:56584513-56584938	HL-60	blood:	n/a	chr14:56584650-56584657 chr14:56584647-56584660
27	MXI1	chr14:56584118-56587663	IMR90	lung:	n/a	n/a
28	CREB1	chr14:56584394-56585341	A549	lung:	n/a	n/a
29	TEAD4	chr14:56584682-56585129	ECC-1	luminal epithelium:	n/a	n/a
30	FOXA1	chr14:56584657-56584979	T-47D	breast:	n/a	n/a
31	MAX	chr14:56584577-56585311	Hela-S3	cervix:	n/a	chr14:56585049-56585059
32	POLR2A	chr14:56584864-56585316	PFSK-1	brain:	n/a	n/a
33	TBP	chr14:56584386-56585340	H1-hESC	embryonic stem cell:	n/a	chr14:56584820-56584831
34	MAX	chr14:56584283-56584943	MCF-7	breast:	n/a	chr14:56584397-56584407
35	MAZ	chr14:56584463-56585652	Hela-S3	cervix:	n/a	chr14:56585049-56585059
36	RCOR1	chr14:56584452-56585252	K562	blood:	n/a	n/a
37	CEBPB	chr14:56584703-56584919	Hela-S3	cervix:	n/a	n/a
38	CCNT2	chr14:56584668-56585232	K562	blood:	n/a	n/a
39	MAX	chr14:56584499-56585399	ECC-1	luminal epithelium:	n/a	chr14:56585049-56585059
40	FOXA1	chr14:56584577-56584989	T-47D	breast:	n/a	n/a
41	TEAD4	chr14:56584674-56585145	ECC-1	luminal epithelium:	n/a	n/a
42	MAZ	chr14:56584369-56585754	K562	blood:	n/a	chr14:56585049-56585059 chr14:56584397-56584407
43	MAZ	chr14:56584714-56585167	HepG2	liver:	n/a	chr14:56585049-56585059
44	CTBP2	chr14:56584489-56586565	H1-hESC	embryonic stem cell:	n/a	n/a
45	JUND	chr14:56584732-56585229	K562	blood:	n/a	chr14:56584838-56584850 chr14:56584793-56584802
46	POLR2A	chr14:56584906-56585337	HUVEC	blood vessel:	n/a	n/a
47	REST	chr14:56584216-56586831	H1-neurons	neurons:	n/a	chr14:56585213-56585231 chr14:56586193-56586206 chr14:56585663-56585672
48	MAX	chr14:56584327-56584947	H1-hESC	embryonic stem cell:	n/a	chr14:56584397-56584407
49	MAX	chr14:56584372-56585346	A549	lung:	n/a	chr14:56585049-56585059 chr14:56584397-56584407
50	RFX5	chr14:56584545-56584965	Hela-S3	cervix:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:56584874-56584924	NT2-D1	testis:	n/a
2	chr14:56584874-56584924	K562	blood:	n/a
3	chr14:56584874-56584924	PFSK-1	brain:	n/a
4	chr14:56584874-56584924	HEK293	kidney:	embryo
5	chr14:56584874-56584924	HEEpiC	esophagus:	n/a
6	chr14:56584874-56584924	CMK	blood:	n/a
7	chr14:56584874-56584924	HCPEpiC	choroid plexus:	n/a
8	chr14:56584874-56584924	AG04449	skin:	fetal
9	chr14:56584874-56584924	HAEpiC	amniotic membrane:	n/a
10	chr14:56584874-56584924	NHDF-neo	bronchial:	n/a
11	chr14:56584874-56584924	HMEC	breast:	n/a
12	chr14:56584874-56584924	GM12878	blood:	n/a
13	chr14:56584874-56584924	AG09319	gingival:	n/a
14	chr14:56584874-56584924	SK-N-SH_RA	brain:	n/a
15	chr14:56584874-56584924	MCF-7	breast:	n/a
16	chr14:56584874-56584924	H1-hESC	embryonic stem cell:	embryo
17	chr14:56584874-56584924	BE2_C	brain:	n/a
18	chr14:56584874-56584924	ProgFib	skin:	n/a
19	chr14:56584874-56584924	HRPEpiC	eye:	n/a
20	chr14:56584874-56584924	Hela-S3	cervix:	n/a
21	chr14:56584874-56584924	NH-A	brain:	n/a
22	chr14:56584874-56584924	HL-60	blood:	n/a
23	chr14:56584874-56584924	GM12892	blood:	n/a
24	chr14:56584874-56584924	GM12891	blood:	n/a
25	chr14:56584874-56584924	HIPEpiC	eye:	n/a
26	chr14:56584874-56584924	HPAEpiC	pulmonary alveolar:	n/a
27	chr14:56584874-56584924	U87	brain:	n/a
28	chr14:56584874-56584924	HNPCEpiC	eye:	n/a
29	chr14:56584874-56584924	AG10803	skin:	n/a
30	chr14:56584874-56584924	AG04450	lung:	fetal
31	chr14:56584874-56584924	RPTEC	kidney:	n/a
32	chr14:56584874-56584924	PrEC	prostate:	n/a
33	chr14:56584874-56584924	NHBE	bronchial:	n/a
34	chr14:56584874-56584924	GM19239	blood:	n/a
35	chr14:56584874-56584924	Caco-2	colon:	n/a
36	chr14:56584874-56584924	SK-N-SH	brain:	n/a
37	chr14:56584874-56584924	AG09309	skin:	n/a
38	chr14:56584874-56584924	HepG2	liver:	n/a
39	chr14:56584874-56584924	ECC-1	luminal epithelium:	n/a
40	chr14:56584874-56584924	SK-N-MC	brain:	n/a
41	chr14:56584874-56584924	IMR90	lung:	fetal
42	chr14:56584874-56584924	HRE	kidney:	n/a
43	chr14:56584874-56584924	SAEC	small airway:	n/a
44	chr14:56584874-56584924	NB4	blood:	n/a
45	chr14:56584874-56584924	GM06990	blood:	n/a
46	chr14:56584874-56584924	HCF	heart:	n/a
47	chr14:56584874-56584924	BJ	skin:	n/a
48	chr14:56584874-56584924	A549	lung:	n/a
49	chr14:56584874-56584924	PANC-1	pancreas:	n/a
50	chr14:56584874-56584924	HRCEpiC	kidney:	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
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	chr14:56583400-56587600	Active TSS	Ovary	ovary
2	chr14:56583800-56587400	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr14:56584000-56586200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:56584000-56586400	Active TSS	A549	lung
5	chr14:56584000-56586600	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr14:56584000-56586800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr14:56584000-56587000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr14:56584000-56587200	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr14:56584000-56587200	Active TSS	Stomach Smooth Muscle	stomach
10	chr14:56584000-56587400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr14:56584000-56587400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr14:56584000-56587600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr14:56584200-56585400	Active TSS	Brain Germinal Matrix	brain
14	chr14:56584200-56585600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr14:56584200-56586000	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr14:56584200-56586400	Active TSS	H1 Cell Line	embryonic stem cell
17	chr14:56584200-56586400	Active TSS	H9 Cell Line	embryonic stem cell
18	chr14:56584200-56586400	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr14:56584200-56586400	Active TSS	Cortex derived primary cultured neurospheres	brain
20	chr14:56584200-56586400	Active TSS	Osteobl	bone
21	chr14:56584200-56586600	Active TSS	Thymus	Thymus
22	chr14:56584200-56586600	Active TSS	NH-A	brain
23	chr14:56584200-56586800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr14:56584200-56586800	Active TSS	Brain Anterior Caudate	brain
25	chr14:56584200-56586800	Active TSS	NHDF-Ad	bronchial
26	chr14:56584200-56586800	Active TSS	NHLF	lung
27	chr14:56584200-56587000	Active TSS	Brain Angular Gyrus	brain
28	chr14:56584200-56587000	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr14:56584200-56587200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr14:56584200-56587200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr14:56584200-56587200	Active TSS	Colonic Mucosa	Colon
32	chr14:56584200-56587200	Active TSS	Fetal Intestine Large	intestine
33	chr14:56584200-56587200	Active TSS	Fetal Kidney	kidney
34	chr14:56584200-56587200	Active TSS	Right Atrium	heart
35	chr14:56584200-56587200	Active TSS	Right Ventricle	heart
36	chr14:56584400-56585200	Bivalent/Poised TSS	HMEC	breast
37	chr14:56584400-56585400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr14:56584400-56585600	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr14:56584400-56585800	Active TSS	Placenta Amnion	Placenta Amnion
40	chr14:56584400-56586000	Active TSS	K562	blood
41	chr14:56584400-56586200	Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr14:56584400-56586200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
43	chr14:56584400-56586400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr14:56584400-56586400	Active TSS	Fetal Stomach	stomach
45	chr14:56584400-56586400	Active TSS	Spleen	Spleen
46	chr14:56584400-56586600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr14:56584400-56586600	Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr14:56584400-56586600	Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr14:56584400-56586600	Active TSS	Sigmoid Colon	Sigmoid Colon
50	chr14:56584400-56586600	Active TSS	Small Intestine	intestine

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