Variant report

Variant	rs2247272
Chromosome Location	chr14:69951308-69951309
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 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	POLR2A	chr14:69951105-69951368	HCT-116	colon:	n/a	n/a
4	MAX	chr14:69950865-69951399	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr14:69950230-69951884	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr14:69950937-69951341	MCF-7	breast:	n/a	n/a
7	ZBTB7A	chr14:69950355-69952126	ECC-1	luminal epithelium:	n/a	chr14:69950517-69950526 chr14:69951500-69951509
8	USF1	chr14:69951209-69951396	SK-N-SH_RA	brain:	n/a	n/a
9	NFIC	chr14:69950115-69951327	ECC-1	luminal epithelium:	n/a	n/a
10	TAF1	chr14:69950372-69951792	ECC-1	luminal epithelium:	n/a	n/a
11	CTBP2	chr14:69950474-69951751	H1-hESC	embryonic stem cell:	n/a	n/a
12	USF1	chr14:69951219-69951396	SK-N-SH_RA	brain:	n/a	n/a
13	TEAD4	chr14:69950247-69951637	ECC-1	luminal epithelium:	n/a	n/a
14	NR2F2	chr14:69950492-69952129	MCF-7	breast:	n/a	n/a
15	TCF12	chr14:69950148-69951705	ECC-1	luminal epithelium:	n/a	chr14:69951023-69951031
16	POLR2A	chr14:69950357-69951674	ECC-1	luminal epithelium:	n/a	n/a
17	SIN3A	chr14:69950441-69951712	H1-hESC	embryonic stem cell:	n/a	chr14:69951658-69951671 chr14:69951364-69951377 chr14:69950533-69950546
18	HDAC2	chr14:69950359-69951785	MCF-7	breast:	n/a	n/a
19	MAX	chr14:69950187-69951692	ECC-1	luminal epithelium:	n/a	n/a
20	USF1	chr14:69950892-69951540	ECC-1	luminal epithelium:	n/a	n/a
21	MAX	chr14:69950476-69951987	MCF-7	breast:	n/a	n/a
22	TEAD4	chr14:69950247-69951558	ECC-1	luminal epithelium:	n/a	n/a
23	TCF12	chr14:69950177-69951768	ECC-1	luminal epithelium:	n/a	chr14:69951023-69951031
24	HDAC2	chr14:69950530-69951309	MCF-7	breast:	n/a	n/a
25	EP300	chr14:69950137-69951706	ECC-1	luminal epithelium:	n/a	chr14:69951282-69951291 chr14:69950814-69950823 chr14:69951543-69951559
26	ELF1	chr14:69950424-69951973	MCF-7	breast:	n/a	chr14:69951225-69951237 chr14:69951656-69951668 chr14:69950813-69950825 chr14:69950812-69950821 chr14:69950815-69950824
27	TAF1	chr14:69950807-69951664	ECC-1	luminal epithelium:	n/a	n/a
28	E2F6	chr14:69950615-69951619	H1-hESC	embryonic stem cell:	n/a	chr14:69951340-69951349 chr14:69950813-69950823
29	POLR2A	chr14:69950886-69951309	MCF-7	breast:	n/a	n/a
30	NFIC	chr14:69950182-69951608	ECC-1	luminal epithelium:	n/a	n/a
31	USF2	chr14:69950984-69951448	H1-hESC	embryonic stem cell:	n/a	n/a
32	E2F6	chr14:69950805-69951967	H1-hESC	embryonic stem cell:	n/a	chr14:69951340-69951349 chr14:69950813-69950823
33	MAX	chr14:69950369-69951928	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr14:69950411-69951334	ECC-1	luminal epithelium:	n/a	n/a
35	HA-E2F1	chr14:69950256-69951777	MCF-7	breast:	n/a	chr14:69951340-69951349 chr14:69950813-69950823

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:69951305-69951355	GM12891	blood:	n/a
2	chr14:69951305-69951355	GM06990	blood:	n/a
3	chr14:69951305-69951355	AG09319	gingival:	n/a
4	chr14:69951305-69951355	HCT-116	colon:	n/a
5	chr14:69951305-69951355	A549	lung:	n/a
6	chr14:69951305-69951355	SK-N-MC	brain:	n/a
7	chr14:69951305-69951355	GM12878	blood:	n/a
8	chr14:69951305-69951355	HEK293	kidney:	embryo
9	chr14:69951305-69951355	K562	blood:	n/a
10	chr14:69951305-69951355	SK-N-SH_RA	brain:	n/a
11	chr14:69951305-69951355	Hela-S3	cervix:	n/a
12	chr14:69951305-69951355	HUVEC	blood vessel:	n/a
13	chr14:69951305-69951355	T-47D	breast:	n/a
14	chr14:69951305-69951355	IMR90	lung:	fetal
15	chr14:69951305-69951355	Jurkat	blood:	n/a
16	chr14:69951305-69951355	PrEC	prostate:	n/a
17	chr14:69951305-69951355	MCF-7	breast:	n/a
18	chr14:69951305-69951355	ovcar-3	ovarian:	n/a
19	chr14:69951305-69951355	HRCEpiC	kidney:	n/a
20	chr14:69951305-69951355	NH-A	brain:	n/a
21	chr14:69951305-69951355	GM12892	blood:	n/a
22	chr14:69951305-69951355	AoSMC	blood vessel:	n/a
23	chr14:69951305-69951355	HIPEpiC	eye:	n/a
24	chr14:69951305-69951355	HL-60	blood:	n/a
25	chr14:69951305-69951355	HNPCEpiC	eye:	n/a
26	chr14:69951305-69951355	PANC-1	pancreas:	n/a
27	chr14:69951305-69951355	AG09309	skin:	n/a
28	chr14:69951305-69951355	HMEC	breast:	n/a
29	chr14:69951305-69951355	HAEpiC	amniotic membrane:	n/a
30	chr14:69951305-69951355	BJ	skin:	n/a
31	chr14:69951305-69951355	HRPEpiC	eye:	n/a
32	chr14:69951305-69951355	HPAEpiC	pulmonary alveolar:	n/a
33	chr14:69951305-69951355	AG04449	skin:	fetal
34	chr14:69951305-69951355	GM19239	blood:	n/a
35	chr14:69951305-69951355	ProgFib	skin:	n/a
36	chr14:69951305-69951355	HCPEpiC	choroid plexus:	n/a
37	chr14:69951305-69951355	NHDF-neo	bronchial:	n/a
38	chr14:69951305-69951355	H1-hESC	embryonic stem cell:	embryo
39	chr14:69951305-69951355	SKMC	muscle:	n/a
40	chr14:69951305-69951355	HEEpiC	esophagus:	n/a
41	chr14:69951305-69951355	HRE	kidney:	n/a
42	chr14:69951305-69951355	MCF10A-Er-Src	breast:	n/a
43	chr14:69951305-69951355	PFSK-1	brain:	n/a
44	chr14:69951305-69951355	HCM	heart:	n/a
45	chr14:69951305-69951355	Hepatocyte	liver:	n/a
46	chr14:69951305-69951355	AG10803	skin:	n/a
47	chr14:69951305-69951355	NT2-D1	testis:	n/a
48	chr14:69951305-69951355	U87	brain:	n/a
49	chr14:69951305-69951355	ECC-1	luminal epithelium:	n/a
50	chr14:69951305-69951355	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
ENSG00000100650	Chromatin interaction
ENSG00000267909	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:93 , 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	chr14:69950400-69951400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
3	chr14:69950400-69951400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
4	chr14:69950400-69951600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
5	chr14:69950400-69951600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
6	chr14:69950400-69951600	Flanking Bivalent TSS/Enh	Ovary	ovary
7	chr14:69950400-69951800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
8	chr14:69950400-69951800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
9	chr14:69950400-69951800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr14:69950400-69951800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
11	chr14:69950400-69951800	Bivalent Enhancer	Fetal Brain Male	brain
12	chr14:69950400-69952000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
13	chr14:69950400-69952000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
14	chr14:69950400-69952000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr14:69950400-69952000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
16	chr14:69950400-69952000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
17	chr14:69950400-69952000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
18	chr14:69950400-69952000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr14:69950400-69952000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr14:69950400-69952000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
21	chr14:69950400-69952200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
22	chr14:69950400-69952200	Bivalent Enhancer	Spleen	Spleen
23	chr14:69950600-69951400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
24	chr14:69950600-69951400	Bivalent/Poised TSS	Esophagus	oesophagus
25	chr14:69950600-69951400	Flanking Active TSS	Gastric	stomach
26	chr14:69950600-69951400	Active TSS	Left Ventricle	heart
27	chr14:69950600-69951400	Active TSS	Psoas Muscle	Psoas
28	chr14:69950600-69951600	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr14:69950600-69951600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr14:69950600-69951600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
31	chr14:69950600-69951800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr14:69950600-69951800	Enhancers	Primary B cells from cord blood	blood
33	chr14:69950600-69951800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
34	chr14:69950600-69951800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr14:69950600-69951800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr14:69950600-69951800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr14:69950600-69951800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr14:69950600-69951800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
39	chr14:69950600-69951800	Enhancers	Fetal Heart	heart
40	chr14:69950600-69952000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr14:69950600-69952000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr14:69950600-69952000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
43	chr14:69950600-69952000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr14:69950600-69952000	Bivalent/Poised TSS	A549	lung
45	chr14:69950800-69951400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
46	chr14:69950800-69951600	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr14:69950800-69951600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr14:69950800-69951600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
49	chr14:69950800-69951600	Active TSS	HSMMtube	muscle
50	chr14:69950800-69951800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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