Variant report

Variant	rs117998457
Chromosome Location	chr14:69951411-69951412
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZBTB7A	chr14:69950544-69951924	ECC-1	luminal epithelium:	n/a	chr14:69951500-69951509
2	USF1	chr14:69951224-69951439	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr14:69950230-69951884	ECC-1	luminal epithelium:	n/a	n/a
4	ZBTB7A	chr14:69950355-69952126	ECC-1	luminal epithelium:	n/a	chr14:69950517-69950526 chr14:69951500-69951509
5	TAF1	chr14:69950372-69951792	ECC-1	luminal epithelium:	n/a	n/a
6	CTBP2	chr14:69950474-69951751	H1-hESC	embryonic stem cell:	n/a	n/a
7	TEAD4	chr14:69950247-69951637	ECC-1	luminal epithelium:	n/a	n/a
8	NR2F2	chr14:69950492-69952129	MCF-7	breast:	n/a	n/a
9	TCF12	chr14:69950148-69951705	ECC-1	luminal epithelium:	n/a	chr14:69951023-69951031
10	POLR2A	chr14:69950357-69951674	ECC-1	luminal epithelium:	n/a	n/a
11	SIN3A	chr14:69950441-69951712	H1-hESC	embryonic stem cell:	n/a	chr14:69951658-69951671 chr14:69951364-69951377 chr14:69950533-69950546
12	HDAC2	chr14:69950359-69951785	MCF-7	breast:	n/a	n/a
13	MAX	chr14:69950187-69951692	ECC-1	luminal epithelium:	n/a	n/a
14	USF1	chr14:69950892-69951540	ECC-1	luminal epithelium:	n/a	n/a
15	MAX	chr14:69950476-69951987	MCF-7	breast:	n/a	n/a
16	TEAD4	chr14:69950247-69951558	ECC-1	luminal epithelium:	n/a	n/a
17	CTCF	chr14:69951400-69951550	AG04449	skin:	n/a	n/a
18	TCF12	chr14:69950177-69951768	ECC-1	luminal epithelium:	n/a	chr14:69951023-69951031
19	CTCF	chr14:69951340-69951490	GM12871	blood:	n/a	n/a
20	EP300	chr14:69950137-69951706	ECC-1	luminal epithelium:	n/a	chr14:69951282-69951291 chr14:69950814-69950823 chr14:69951543-69951559
21	HDAC2	chr14:69951360-69951664	HepG2	liver:	n/a	n/a
22	ELF1	chr14:69950424-69951973	MCF-7	breast:	n/a	chr14:69951225-69951237 chr14:69951656-69951668 chr14:69950813-69950825 chr14:69950812-69950821 chr14:69950815-69950824
23	TAF1	chr14:69950807-69951664	ECC-1	luminal epithelium:	n/a	n/a
24	E2F6	chr14:69950615-69951619	H1-hESC	embryonic stem cell:	n/a	chr14:69951340-69951349 chr14:69950813-69950823
25	NFIC	chr14:69950182-69951608	ECC-1	luminal epithelium:	n/a	n/a
26	USF2	chr14:69950984-69951448	H1-hESC	embryonic stem cell:	n/a	n/a
27	E2F6	chr14:69950805-69951967	H1-hESC	embryonic stem cell:	n/a	chr14:69951340-69951349 chr14:69950813-69950823
28	MAX	chr14:69950369-69951928	H1-hESC	embryonic stem cell:	n/a	n/a
29	HA-E2F1	chr14:69950256-69951777	MCF-7	breast:	n/a	chr14:69951340-69951349 chr14:69950813-69950823
30	CTCF	chr14:69951360-69951510	SK-N-SH_RA	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:69951372-69951422	T-47D	breast:	n/a
2	chr14:69951372-69951422	Caco-2	colon:	n/a
3	chr14:69951372-69951422	HCT-116	colon:	n/a
4	chr14:69951372-69951422	Hepatocyte	liver:	n/a
5	chr14:69951372-69951422	AoSMC	blood vessel:	n/a
6	chr14:69951372-69951422	HepG2	liver:	n/a
7	chr14:69951372-69951422	HL-60	blood:	n/a
8	chr14:69951372-69951422	NHBE	bronchial:	n/a
9	chr14:69951372-69951422	LNCaP	prostate:	n/a
10	chr14:69951372-69951422	ProgFib	skin:	n/a
11	chr14:69951372-69951422	ECC-1	luminal epithelium:	n/a
12	chr14:69951372-69951422	HIPEpiC	eye:	n/a
13	chr14:69951372-69951422	HRE	kidney:	n/a
14	chr14:69951372-69951422	AG09319	gingival:	n/a
15	chr14:69951372-69951422	PrEC	prostate:	n/a
16	chr14:69951372-69951422	BJ	skin:	n/a
17	chr14:69951372-69951422	K562	blood:	n/a
18	chr14:69951372-69951422	HEEpiC	esophagus:	n/a
19	chr14:69951372-69951422	SAEC	small airway:	n/a
20	chr14:69951372-69951422	PFSK-1	brain:	n/a
21	chr14:69951372-69951422	NHDF-neo	bronchial:	n/a
22	chr14:69951372-69951422	SK-N-SH	brain:	n/a
23	chr14:69951372-69951422	HRPEpiC	eye:	n/a
24	chr14:69951372-69951422	AG09309	skin:	n/a
25	chr14:69951372-69951422	A549	lung:	n/a
26	chr14:69951372-69951422	HCF	heart:	n/a
27	chr14:69951372-69951422	H1-hESC	embryonic stem cell:	embryo
28	chr14:69951372-69951422	CMK	blood:	n/a
29	chr14:69951372-69951422	HUVEC	blood vessel:	n/a
30	chr14:69951372-69951422	MCF-7	breast:	n/a
31	chr14:69951372-69951422	GM12892	blood:	n/a
32	chr14:69951372-69951422	AG04450	lung:	fetal
33	chr14:69951372-69951422	NH-A	brain:	n/a
34	chr14:69951372-69951422	SK-N-SH_RA	brain:	n/a
35	chr14:69951372-69951422	GM06990	blood:	n/a
36	chr14:69951372-69951422	HPAEpiC	pulmonary alveolar:	n/a
37	chr14:69951372-69951422	Hela-S3	cervix:	n/a
38	chr14:69951372-69951422	MCF10A-Er-Src	breast:	n/a
39	chr14:69951372-69951422	HNPCEpiC	eye:	n/a
40	chr14:69951372-69951422	SK-N-MC	brain:	n/a
41	chr14:69951372-69951422	GM12891	blood:	n/a
42	chr14:69951372-69951422	HEK293	kidney:	embryo
43	chr14:69951372-69951422	HRCEpiC	kidney:	n/a
44	chr14:69951372-69951422	IMR90	lung:	fetal
45	chr14:69951372-69951422	AG10803	skin:	n/a
46	chr14:69951372-69951422	SKMC	muscle:	n/a
47	chr14:69951372-69951422	HCM	heart:	n/a
48	chr14:69951372-69951422	U87	brain:	n/a
49	chr14:69951372-69951422	HCPEpiC	choroid plexus:	n/a
50	chr14:69951372-69951422	RPTEC	kidney:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:69950456..69952040-chr14:70233397..70235258,2	MCF-7	breast:
2	chr14:69949714..69952374-chr14:70039182..70041131,3	MCF-7	breast:
3	chr14:69949476..69951469-chr14:70232962..70234565,2	MCF-7	breast:

No data

Variant related genes	Relation type
PLEKHD1	TF binding region
PLEKHD1	CpG island
ENSG00000267909	Chromatin interaction
ENSG00000100650	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3396933	chr14:69906914-70001258	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1048882	chr14:69920881-69976694	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1052107	chr14:69922552-69969297	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1039230	chr14:69922552-69972002	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1039192	chr14:69922552-69976694	Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv456335	chr14:69928307-69971598	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv564967	chr14:69928307-69971598	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv1050258	chr14:69942127-69976694	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
9	esv3357015	chr14:69950224-69952772	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69949800-69952600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr14:69950400-69951600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
3	chr14:69950400-69951600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
4	chr14:69950400-69951600	Flanking Bivalent TSS/Enh	Ovary	ovary
5	chr14:69950400-69951800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr14:69950400-69951800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
7	chr14:69950400-69951800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr14:69950400-69951800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
9	chr14:69950400-69951800	Bivalent Enhancer	Fetal Brain Male	brain
10	chr14:69950400-69952000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr14:69950400-69952000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
12	chr14:69950400-69952000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr14:69950400-69952000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
14	chr14:69950400-69952000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
15	chr14:69950400-69952000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
16	chr14:69950400-69952000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr14:69950400-69952000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr14:69950400-69952000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
19	chr14:69950400-69952200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
20	chr14:69950400-69952200	Bivalent Enhancer	Spleen	Spleen
21	chr14:69950600-69951600	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr14:69950600-69951600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr14:69950600-69951600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
24	chr14:69950600-69951800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr14:69950600-69951800	Enhancers	Primary B cells from cord blood	blood
26	chr14:69950600-69951800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
27	chr14:69950600-69951800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr14:69950600-69951800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr14:69950600-69951800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr14:69950600-69951800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr14:69950600-69951800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
32	chr14:69950600-69951800	Enhancers	Fetal Heart	heart
33	chr14:69950600-69952000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr14:69950600-69952000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr14:69950600-69952000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
36	chr14:69950600-69952000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr14:69950600-69952000	Bivalent/Poised TSS	A549	lung
38	chr14:69950800-69951600	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr14:69950800-69951600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr14:69950800-69951600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
41	chr14:69950800-69951600	Active TSS	HSMMtube	muscle
42	chr14:69950800-69951800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr14:69950800-69951800	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr14:69950800-69951800	Bivalent Enhancer	Fetal Lung	lung
45	chr14:69950800-69952000	Flanking Active TSS	Right Atrium	heart
46	chr14:69951000-69951600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr14:69951000-69951600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr14:69951000-69951600	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
49	chr14:69951000-69951600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
50	chr14:69951000-69951800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood

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