Variant report

Variant	rs552329101
Chromosome Location	chr14:65170216-65170217
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:42)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:42 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr14:65169679-65170269	ECC-1	luminal epithelium:	n/a	n/a
2	EP300	chr14:65169615-65170342	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr14:65170197-65170223	H1-hESC	embryonic stem cell:	n/a	n/a
4	TCF7L2	chr14:65169801-65170335	HCT-116	colon:	n/a	n/a
5	CHD1	chr14:65170208-65171187	H1-hESC	embryonic stem cell:	n/a	n/a
6	SIN3AK20	chr14:65169832-65170351	H1-hESC	embryonic stem cell:	n/a	n/a
7	HA-E2F1	chr14:65169675-65172166	MCF-7	breast:	n/a	chr14:65171866-65171881 chr14:65170968-65170978 chr14:65172102-65172109 chr14:65169782-65169791
8	SIN3AK20	chr14:65169607-65171579	HCT-116	colon:	n/a	n/a
9	YY1	chr14:65169787-65170288	ECC-1	luminal epithelium:	n/a	chr14:65170049-65170060
10	USF1	chr14:65169850-65170309	ECC-1	luminal epithelium:	n/a	n/a
11	CTBP2	chr14:65169475-65170272	H1-hESC	embryonic stem cell:	n/a	n/a
12	FOXM1	chr14:65169581-65171381	ECC-1	luminal epithelium:	n/a	n/a
13	USF1	chr14:65169873-65170228	H1-hESC	embryonic stem cell:	n/a	n/a
14	ZBTB7A	chr14:65169300-65170228	ECC-1	luminal epithelium:	n/a	n/a
15	TCF12	chr14:65169510-65170425	ECC-1	luminal epithelium:	n/a	chr14:65170169-65170176
16	RAD21	chr14:65169646-65170217	ECC-1	luminal epithelium:	n/a	n/a
17	EGR1	chr14:65170142-65170404	K562	blood:	n/a	n/a
18	SP1	chr14:65169661-65170312	H1-hESC	embryonic stem cell:	n/a	chr14:65169995-65170009 chr14:65170056-65170070 chr14:65170056-65170065
19	MYC	chr14:65170015-65171235	MCF10A-Er-Src	breast:	n/a	chr14:65170873-65170883 chr14:65170874-65170881 chr14:65170869-65170884 chr14:65170873-65170882
20	MAX	chr14:65169700-65170254	ECC-1	luminal epithelium:	n/a	n/a
21	TAF1	chr14:65169678-65170346	ECC-1	luminal epithelium:	n/a	n/a
22	POLR2A	chr14:65169759-65170314	HCT-116	colon:	n/a	n/a
23	TAF1	chr14:65169636-65170317	H1-hESC	embryonic stem cell:	n/a	n/a
24	TCF12	chr14:65169530-65170476	ECC-1	luminal epithelium:	n/a	chr14:65170420-65170427 chr14:65170169-65170176
25	SIN3A	chr14:65169247-65172845	H1-hESC	embryonic stem cell:	n/a	chr14:65170757-65170768 chr14:65171026-65171039 chr14:65171772-65171781
26	NFIC	chr14:65169577-65170456	ECC-1	luminal epithelium:	n/a	n/a
27	POLR2A	chr14:65169696-65170471	HCT-116	colon:	n/a	n/a
28	MYC	chr14:65170028-65170230	H1-hESC	embryonic stem cell:	n/a	n/a
29	FOXM1	chr14:65169663-65170573	ECC-1	luminal epithelium:	n/a	n/a
30	NFIC	chr14:65169655-65170330	ECC-1	luminal epithelium:	n/a	n/a
31	EP300	chr14:65169537-65172188	ECC-1	luminal epithelium:	n/a	chr14:65170968-65170977 chr14:65171022-65171031
32	TEAD4	chr14:65169359-65170251	ECC-1	luminal epithelium:	n/a	chr14:65169911-65169920
33	GABPA	chr14:65169721-65170503	MCF-7	breast:	n/a	n/a
34	POLR2A	chr14:65169213-65172105	ECC-1	luminal epithelium:	n/a	n/a
35	TEAD4	chr14:65169596-65170269	H1-hESC	embryonic stem cell:	n/a	chr14:65169911-65169920
36	MAX	chr14:65169395-65170372	ECC-1	luminal epithelium:	n/a	n/a
37	MAX	chr14:65169786-65172685	MCF-7	breast:	n/a	chr14:65170873-65170883 chr14:65170874-65170881 chr14:65170869-65170884 chr14:65170873-65170882
38	MAX	chr14:65169703-65170239	H1-hESC	embryonic stem cell:	n/a	n/a
39	YY1	chr14:65169696-65170249	H1-hESC	embryonic stem cell:	n/a	chr14:65170049-65170060
40	POLR2A	chr14:65169627-65171518	ECC-1	luminal epithelium:	n/a	n/a
41	MXI1	chr14:65170022-65172720	SK-N-SH	brain:	n/a	n/a
42	GABPA	chr14:65169632-65170418	MCF-7	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:65170209-65170259	SK-N-MC	brain:	n/a
2	chr14:65170209-65170259	IMR90	lung:	fetal
3	chr14:65170209-65170259	K562	blood:	n/a
4	chr14:65170209-65170259	HRPEpiC	eye:	n/a
5	chr14:65170209-65170259	Jurkat	blood:	n/a
6	chr14:65170209-65170259	HMEC	breast:	n/a
7	chr14:65170209-65170259	MCF-7	breast:	n/a
8	chr14:65170209-65170259	GM12878	blood:	n/a
9	chr14:65170209-65170259	SK-N-SH_RA	brain:	n/a
10	chr14:65170209-65170259	PrEC	prostate:	n/a
11	chr14:65170209-65170259	HNPCEpiC	eye:	n/a
12	chr14:65170209-65170259	GM12892	blood:	n/a
13	chr14:65170209-65170259	AG09309	skin:	n/a
14	chr14:65170209-65170259	A549	lung:	n/a
15	chr14:65170209-65170259	Hepatocyte	liver:	n/a
16	chr14:65170209-65170259	GM06990	blood:	n/a
17	chr14:65170209-65170259	ECC-1	luminal epithelium:	n/a
18	chr14:65170209-65170259	GM19239	blood:	n/a
19	chr14:65170209-65170259	NH-A	brain:	n/a
20	chr14:65170209-65170259	AG10803	skin:	n/a
21	chr14:65170209-65170259	NB4	blood:	n/a
22	chr14:65170209-65170259	HCF	heart:	n/a
23	chr14:65170209-65170259	HUVEC	blood vessel:	n/a
24	chr14:65170209-65170259	HAEpiC	amniotic membrane:	n/a
25	chr14:65170209-65170259	BJ	skin:	n/a
26	chr14:65170209-65170259	AG04449	skin:	fetal
27	chr14:65170209-65170259	HRE	kidney:	n/a
28	chr14:65170209-65170259	HCM	heart:	n/a
29	chr14:65170209-65170259	U87	brain:	n/a
30	chr14:65170209-65170259	HEEpiC	esophagus:	n/a
31	chr14:65170209-65170259	NHDF-neo	bronchial:	n/a
32	chr14:65170209-65170259	NHBE	bronchial:	n/a
33	chr14:65170209-65170259	Caco-2	colon:	n/a
34	chr14:65170209-65170259	HIPEpiC	eye:	n/a
35	chr14:65170209-65170259	BE2_C	brain:	n/a
36	chr14:65170209-65170259	CMK	blood:	n/a
37	chr14:65170209-65170259	RPTEC	kidney:	n/a
38	chr14:65170209-65170259	H1-hESC	embryonic stem cell:	embryo
39	chr14:65170209-65170259	LNCaP	prostate:	n/a
40	chr14:65170209-65170259	PFSK-1	brain:	n/a
41	chr14:65170209-65170259	Hela-S3	cervix:	n/a
42	chr14:65170209-65170259	T-47D	breast:	n/a
43	chr14:65170209-65170259	HPAEpiC	pulmonary alveolar:	n/a
44	chr14:65170209-65170259	AG09319	gingival:	n/a
45	chr14:65170209-65170259	ProgFib	skin:	n/a
46	chr14:65170209-65170259	HL-60	blood:	n/a
47	chr14:65170209-65170259	ovcar-3	ovarian:	n/a
48	chr14:65170209-65170259	AoSMC	blood vessel:	n/a
49	chr14:65170209-65170259	NT2-D1	testis:	n/a
50	chr14:65170209-65170259	HCPEpiC	choroid plexus:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:64968210..64972351-chr14:65168934..65172584,5	MCF-7	breast:
2	chr14:65168373..65176902-chr14:65220182..65231670,21	MCF-7	breast:
3	chr14:65168529..65178400-chr14:65179583..65195815,52	MCF-7	breast:
4	chr14:65168335..65178043-chr14:65220677..65234710,31	MCF-7	breast:
5	chr14:64968319..64971699-chr14:65168654..65172546,5	MCF-7	breast:

No data

Variant related genes	Relation type
PLEKHG3	TF binding region
PLEKHG3	CpG island
ENSG00000070182	Chromatin interaction
ENSG00000089775	Chromatin interaction
ENSG00000126822	Chromatin interaction
ENSG00000126804	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049097	chr14:65027753-65202018	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv3437023	chr14:65170024-65173072	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65163200-65170600	Weak transcription	Right Ventricle	heart
2	chr14:65163400-65170400	Weak transcription	Left Ventricle	heart
3	chr14:65163400-65170600	Weak transcription	Right Atrium	heart
4	chr14:65166200-65170400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr14:65167600-65170400	Enhancers	Brain Substantia Nigra	brain
6	chr14:65167800-65170400	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr14:65167800-65170600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr14:65167800-65170600	Enhancers	Brain Angular Gyrus	brain
9	chr14:65168200-65170400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:65168200-65170400	Bivalent Enhancer	Fetal Muscle Leg	muscle
11	chr14:65168200-65170400	Enhancers	A549	lung
12	chr14:65168400-65170600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr14:65168600-65170400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
14	chr14:65168800-65170400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr14:65169000-65170800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr14:65169200-65170400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr14:65169200-65170600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
18	chr14:65169200-65171200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr14:65169200-65172600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr14:65169400-65170600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr14:65169400-65170800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr14:65169400-65170800	Enhancers	Lung	lung
23	chr14:65169400-65171000	Flanking Active TSS	Duodenum Mucosa	Duodenum
24	chr14:65169400-65171000	Flanking Active TSS	HMEC	breast
25	chr14:65169400-65172600	Active TSS	H9 Cell Line	embryonic stem cell
26	chr14:65169600-65170400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr14:65169600-65170400	Enhancers	Fetal Lung	lung
28	chr14:65169600-65170600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:65169600-65170600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr14:65169600-65170800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr14:65169600-65170800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
32	chr14:65169600-65170800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
33	chr14:65169600-65170800	Flanking Active TSS	Placenta	Placenta
34	chr14:65169600-65171000	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
35	chr14:65169600-65171000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
36	chr14:65169600-65171000	Flanking Active TSS	Fetal Intestine Large	intestine
37	chr14:65169600-65171000	Flanking Active TSS	Fetal Intestine Small	intestine
38	chr14:65169600-65171000	Flanking Active TSS	NHEK	skin
39	chr14:65169600-65171200	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr14:65169600-65171400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
41	chr14:65169600-65172200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr14:65169800-65170400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
43	chr14:65169800-65170400	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood
44	chr14:65169800-65170400	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
45	chr14:65169800-65170400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr14:65169800-65170400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr14:65169800-65170400	Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr14:65169800-65170400	Bivalent Enhancer	Fetal Brain Male	brain
49	chr14:65169800-65170400	Enhancers	Stomach Mucosa	stomach
50	chr14:65169800-65170600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood

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