Variant report

Variant	rs574297227
Chromosome Location	chr14:69726584-69726585
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:148)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:148 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:69726460-69726610	K562	blood:	n/a	n/a
2	CTCF	chr14:69726390-69726726	HepG2	liver:	n/a	n/a
3	CTCF	chr14:69726520-69726670	GM12871	blood:	n/a	n/a
4	MAX	chr14:69726016-69726640	ECC-1	luminal epithelium:	n/a	chr14:69726367-69726377
5	YY1	chr14:69726255-69726890	HepG2	liver:	n/a	chr14:69726854-69726865 chr14:69726854-69726863 chr14:69726725-69726739 chr14:69726445-69726459 chr14:69726857-69726866 chr14:69726370-69726381
6	ZBTB7A	chr14:69726440-69726625	HepG2	liver:	n/a	chr14:69726465-69726476 chr14:69726464-69726475
7	CTCF	chr14:69726540-69726690	HFF-Myc	foreskin:	n/a	n/a
8	CTCF	chr14:69726508-69726621	Lung_OC	lung:	n/a	n/a
9	TBP	chr14:69726391-69726668	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr14:69726461-69726635	GM12891	blood:	n/a	n/a
11	CTCF	chr14:69726518-69726647	HepG2	liver:	n/a	n/a
12	CTBP2	chr14:69726042-69726768	H1-hESC	embryonic stem cell:	n/a	n/a
13	ZBTB7A	chr14:69726202-69726787	ECC-1	luminal epithelium:	n/a	chr14:69726465-69726476 chr14:69726464-69726475
14	CTCF	chr14:69726469-69726653	GM12892	blood:	n/a	n/a
15	CTCF	chr14:69726560-69726710	NHEK	skin:	n/a	n/a
16	CTCF	chr14:69726500-69726650	SK-N-SH_RA	brain:	n/a	n/a
17	CTCF	chr14:69726500-69726650	HBMEC	blood vessel:	n/a	n/a
18	CTCF	chr14:69725565-69727375	A549	lung:	n/a	chr14:69726982-69726991
19	CTCF	chr14:69726475-69726587	GM19239	blood:	n/a	n/a
20	HA-E2F1	chr14:69725839-69727245	MCF-7	breast:	n/a	chr14:69726743-69726753 chr14:69726729-69726739 chr14:69726650-69726662 chr14:69726857-69726866 chr14:69726726-69726736 chr14:69726374-69726384 chr14:69726549-69726559
21	CTCF	chr14:69726500-69726650	K562	blood:	n/a	n/a
22	CTCF	chr14:69726480-69726630	AoAF	blood vessel:	n/a	n/a
23	MAX	chr14:69726528-69727244	SK-N-SH	brain:	n/a	n/a
24	CTCF	chr14:69726444-69726680	K562	blood:	n/a	n/a
25	CTCF	chr14:69726521-69726598	Fibrobl	skin:	n/a	n/a
26	POLR2A	chr14:69726317-69726664	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr14:69726474-69726634	GM10266	blood:	n/a	n/a
28	CTCF	chr14:69726520-69726670	WERI-Rb-1	eye:	n/a	n/a
29	YY1	chr14:69726546-69726763	A549	lung:	n/a	chr14:69726725-69726739
30	CTCF	chr14:69726440-69726590	GM12866	blood:	n/a	n/a
31	CTCF	chr14:69726460-69726610	HRPEpiC	eye:	n/a	n/a
32	CTCF	chr14:69726480-69726630	AG09309	skin:	n/a	n/a
33	CTCF	chr14:69726494-69726635	GM13977	blood:	n/a	n/a
34	CTCF	chr14:69726480-69726630	WI-38	lung:	n/a	n/a
35	ZBTB7A	chr14:69726381-69726602	K562	blood:	n/a	chr14:69726465-69726476 chr14:69726464-69726475
36	CTCF	chr14:69726560-69726710	GM06990	blood:	n/a	n/a
37	CTCF	chr14:69726486-69726660	A549	lung:	n/a	n/a
38	CTCF	chr14:69726480-69726630	Caco-2	colon:	n/a	n/a
39	CTCF	chr14:69726500-69726650	HepG2	liver:	n/a	n/a
40	CTCF	chr14:69726480-69726630	A549	lung:	n/a	n/a
41	CTCF	chr14:69725855-69727377	SK-N-SH	brain:	n/a	chr14:69726982-69726991
42	MAX	chr14:69726092-69727361	MCF-7	breast:	n/a	chr14:69726367-69726377
43	CTCF	chr14:69726460-69726610	HCFaa	heart:	n/a	n/a
44	RAD21	chr14:69726392-69726647	HepG2	liver:	n/a	chr14:69726420-69726433
45	CTCF	chr14:69726540-69726690	SAEC	small airway:	n/a	n/a
46	CTCF	chr14:69726480-69726630	HepG2	liver:	n/a	n/a
47	CTCF	chr14:69726472-69726641	MCF-7	breast:	n/a	n/a
48	BACH1	chr14:69726369-69727680	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr14:69726480-69726630	AG09319	gingival:	n/a	n/a
50	CTCF	chr14:69726520-69726670	HRE	kidney:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:69726536-69726586	MCF-7	breast:	n/a
2	chr14:69726536-69726586	Hepatocyte	liver:	n/a
3	chr14:69726536-69726586	HCPEpiC	choroid plexus:	n/a
4	chr14:69726536-69726586	Jurkat	blood:	n/a
5	chr14:69726536-69726586	NH-A	brain:	n/a
6	chr14:69726536-69726586	CMK	blood:	n/a
7	chr14:69726536-69726586	Hela-S3	cervix:	n/a
8	chr14:69726536-69726586	HPAEpiC	pulmonary alveolar:	n/a
9	chr14:69726536-69726586	GM12878	blood:	n/a
10	chr14:69726536-69726586	BE2_C	brain:	n/a
11	chr14:69726536-69726586	SAEC	small airway:	n/a
12	chr14:69726536-69726586	ECC-1	luminal epithelium:	n/a
13	chr14:69726536-69726586	ProgFib	skin:	n/a
14	chr14:69726536-69726586	H1-hESC	embryonic stem cell:	embryo
15	chr14:69726536-69726586	HMEC	breast:	n/a
16	chr14:69726536-69726586	SK-N-SH	brain:	n/a
17	chr14:69726536-69726586	PrEC	prostate:	n/a
18	chr14:69726536-69726586	HIPEpiC	eye:	n/a
19	chr14:69726536-69726586	AG09319	gingival:	n/a
20	chr14:69726536-69726586	AG09309	skin:	n/a
21	chr14:69726536-69726586	GM12892	blood:	n/a
22	chr14:69726536-69726586	NB4	blood:	n/a
23	chr14:69726536-69726586	PANC-1	pancreas:	n/a
24	chr14:69726536-69726586	HEEpiC	esophagus:	n/a
25	chr14:69726536-69726586	HL-60	blood:	n/a
26	chr14:69726536-69726586	HepG2	liver:	n/a
27	chr14:69726536-69726586	HRE	kidney:	n/a
28	chr14:69726536-69726586	HEK293	kidney:	embryo
29	chr14:69726536-69726586	AG04449	skin:	fetal
30	chr14:69726536-69726586	T-47D	breast:	n/a
31	chr14:69726536-69726586	HRPEpiC	eye:	n/a
32	chr14:69726536-69726586	HNPCEpiC	eye:	n/a
33	chr14:69726536-69726586	RPTEC	kidney:	n/a
34	chr14:69726536-69726586	Caco-2	colon:	n/a
35	chr14:69726536-69726586	HRCEpiC	kidney:	n/a
36	chr14:69726536-69726586	AG10803	skin:	n/a
37	chr14:69726536-69726586	IMR90	lung:	fetal
38	chr14:69726536-69726586	MCF10A-Er-Src	breast:	n/a
39	chr14:69726536-69726586	PFSK-1	brain:	n/a
40	chr14:69726536-69726586	NHDF-neo	bronchial:	n/a
41	chr14:69726536-69726586	AoSMC	blood vessel:	n/a
42	chr14:69726536-69726586	A549	lung:	n/a
43	chr14:69726536-69726586	ovcar-3	ovarian:	n/a
44	chr14:69726536-69726586	HUVEC	blood vessel:	n/a
45	chr14:69726536-69726586	LNCaP	prostate:	n/a
46	chr14:69726536-69726586	GM19239	blood:	n/a
47	chr14:69726536-69726586	NHBE	bronchial:	n/a
48	chr14:69726536-69726586	HCM	heart:	n/a
49	chr14:69726536-69726586	BJ	skin:	n/a
50	chr14:69726536-69726586	SK-N-SH_RA	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:69618346..69620839-chr14:69725644..69728530,2	K562	blood:

No data

Variant related genes	Relation type
GALNT16	TF binding region
GALNT16	CpG island
ENSG00000139990	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	esv3421651	chr14:69725724-69728572	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv3363263	chr14:69725949-69729047	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69725400-69728400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr14:69725600-69728400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr14:69725800-69728600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
4	chr14:69726000-69726600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:69726000-69726600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr14:69726000-69726600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
7	chr14:69726000-69726600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
8	chr14:69726000-69726600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
9	chr14:69726000-69726600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
10	chr14:69726000-69726800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr14:69726000-69727000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
12	chr14:69726000-69727000	Enhancers	Spleen	Spleen
13	chr14:69726000-69727400	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
14	chr14:69726000-69727600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
15	chr14:69726000-69727800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
16	chr14:69726000-69727800	Active TSS	A549	lung
17	chr14:69726000-69727800	Bivalent/Poised TSS	Osteobl	bone
18	chr14:69726000-69728200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
19	chr14:69726000-69728400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
20	chr14:69726000-69728400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr14:69726000-69728400	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr14:69726000-69728600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr14:69726000-69728600	Active TSS	Right Atrium	heart
24	chr14:69726200-69726600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr14:69726200-69726600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr14:69726200-69726600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
27	chr14:69726200-69726600	Flanking Bivalent TSS/Enh	Placenta	Placenta
28	chr14:69726200-69726600	Enhancers	Lung	lung
29	chr14:69726200-69726600	Flanking Active TSS	Ovary	ovary
30	chr14:69726200-69726600	Flanking Active TSS	Pancreas	Pancrea
31	chr14:69726200-69726600	Flanking Active TSS	Stomach Smooth Muscle	stomach
32	chr14:69726200-69726600	Flanking Active TSS	HUVEC	blood vessel
33	chr14:69726200-69726600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
34	chr14:69726200-69726800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr14:69726200-69726800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
36	chr14:69726200-69727000	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr14:69726200-69727000	Enhancers	Liver	Liver
38	chr14:69726200-69727000	Bivalent/Poised TSS	HMEC	breast
39	chr14:69726200-69727400	Bivalent/Poised TSS	Placenta Amnion	Placenta Amnion
40	chr14:69726200-69727600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr14:69726200-69727600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr14:69726200-69727600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr14:69726200-69727600	Active TSS	Brain Substantia Nigra	brain
44	chr14:69726200-69727600	Weak transcription	Fetal Brain Male	brain
45	chr14:69726200-69727600	Weak transcription	Fetal Heart	heart
46	chr14:69726200-69728000	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr14:69726200-69728200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr14:69726200-69728200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr14:69726200-69728200	Active TSS	Aorta	Aorta
50	chr14:69726200-69728400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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