Variant report

Variant	rs539467744
Chromosome Location	chr14:69726273-69726274
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	MAX	chr14:69726016-69726640	ECC-1	luminal epithelium:	n/a	chr14:69726367-69726377
2	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
3	CTBP2	chr14:69726042-69726768	H1-hESC	embryonic stem cell:	n/a	n/a
4	ZBTB7A	chr14:69726202-69726787	ECC-1	luminal epithelium:	n/a	chr14:69726465-69726476 chr14:69726464-69726475
5	MAFK	chr14:69725931-69726294	IMR90	lung:	n/a	chr14:69726106-69726121
6	CTCF	chr14:69725565-69727375	A549	lung:	n/a	chr14:69726982-69726991
7	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
8	MAX	chr14:69726174-69726583	H1-hESC	embryonic stem cell:	n/a	chr14:69726367-69726377
9	MAFF	chr14:69725928-69726299	HepG2	liver:	n/a	chr14:69726104-69726122
10	CTCF	chr14:69725855-69727377	SK-N-SH	brain:	n/a	chr14:69726982-69726991
11	MAX	chr14:69726092-69727361	MCF-7	breast:	n/a	chr14:69726367-69726377
12	MAX	chr14:69726064-69728368	A549	lung:	n/a	chr14:69726367-69726377 chr14:69728085-69728095 chr14:69727394-69727404
13	MAFK	chr14:69725933-69726317	HepG2	liver:	n/a	chr14:69726106-69726121
14	CTCF	chr14:69726260-69726410	HFF-Myc	foreskin:	n/a	n/a
15	POLR2A	chr14:69725866-69727275	H1-neurons	neurons:	n/a	n/a
16	MAFK	chr14:69725950-69726280	K562	blood:	n/a	chr14:69726106-69726121
17	MAFK	chr14:69725929-69726302	HepG2	liver:	n/a	chr14:69726106-69726121
18	CTCF	chr14:69726160-69726310	GM12864	blood:	n/a	n/a
19	E2F6	chr14:69725817-69726645	H1-hESC	embryonic stem cell:	n/a	chr14:69726374-69726384 chr14:69726549-69726559
20	REST	chr14:69725769-69728816	H1-neurons	neurons:	n/a	chr14:69727673-69727686 chr14:69728737-69728746 chr14:69726368-69726381 chr14:69726451-69726464
21	ZBTB7A	chr14:69726106-69727190	ECC-1	luminal epithelium:	n/a	chr14:69726465-69726476 chr14:69726464-69726475
22	POLR2A	chr14:69726171-69728123	H1-neurons	neurons:	n/a	n/a
23	CTCF	chr14:69726273-69726799	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr14:69726160-69726310	GM06990	blood:	n/a	n/a
25	CTCF	chr14:69726200-69726350	HAc	cerebellar:	n/a	n/a
26	E2F6	chr14:69725844-69726576	H1-hESC	embryonic stem cell:	n/a	chr14:69726374-69726384 chr14:69726549-69726559
27	SIN3A	chr14:69726100-69728303	H1-hESC	embryonic stem cell:	n/a	chr14:69726370-69726381 chr14:69726368-69726381 chr14:69726549-69726562 chr14:69726451-69726464 chr14:69728000-69728011 chr14:69727673-69727686
28	MAX	chr14:69726035-69726551	ECC-1	luminal epithelium:	n/a	chr14:69726367-69726377

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:69726251-69726301	SK-N-SH_RA	brain:	n/a
2	chr14:69726251-69726301	A549	lung:	n/a
3	chr14:69726251-69726301	HCPEpiC	choroid plexus:	n/a
4	chr14:69726254-69726304	AG09309	skin:	n/a
5	chr14:69726254-69726304	HCM	heart:	n/a
6	chr14:69726254-69726304	GM12878	blood:	n/a
7	chr14:69726251-69726301	HEK293	kidney:	embryo
8	chr14:69726254-69726304	HAEpiC	amniotic membrane:	n/a
9	chr14:69726254-69726304	AG10803	skin:	n/a
10	chr14:69726254-69726304	BJ	skin:	n/a
11	chr14:69726251-69726301	CMK	blood:	n/a
12	chr14:69726254-69726304	U87	brain:	n/a
13	chr14:69726254-69726304	HUVEC	blood vessel:	n/a
14	chr14:69726251-69726301	HNPCEpiC	eye:	n/a
15	chr14:69726254-69726304	PANC-1	pancreas:	n/a
16	chr14:69726251-69726301	NB4	blood:	n/a
17	chr14:69726251-69726301	AG09309	skin:	n/a
18	chr14:69726254-69726304	HCT-116	colon:	n/a
19	chr14:69726251-69726301	Hela-S3	cervix:	n/a
20	chr14:69726251-69726301	NH-A	brain:	n/a
21	chr14:69726254-69726304	AG04450	lung:	fetal
22	chr14:69726251-69726301	HPAEpiC	pulmonary alveolar:	n/a
23	chr14:69726254-69726304	NHBE	bronchial:	n/a
24	chr14:69726251-69726301	HepG2	liver:	n/a
25	chr14:69726251-69726301	HIPEpiC	eye:	n/a
26	chr14:69726251-69726301	HAEpiC	amniotic membrane:	n/a
27	chr14:69726254-69726304	HRPEpiC	eye:	n/a
28	chr14:69726251-69726301	NT2-D1	testis:	n/a
29	chr14:69726251-69726301	SK-N-SH	brain:	n/a
30	chr14:69726254-69726304	GM19239	blood:	n/a
31	chr14:69726254-69726304	SK-N-SH	brain:	n/a
32	chr14:69726251-69726301	HL-60	blood:	n/a
33	chr14:69726254-69726304	AG04449	skin:	fetal
34	chr14:69726251-69726301	BJ	skin:	n/a
35	chr14:69726251-69726301	ProgFib	skin:	n/a
36	chr14:69726251-69726301	BE2_C	brain:	n/a
37	chr14:69726254-69726304	AG09319	gingival:	n/a
38	chr14:69726251-69726301	HMEC	breast:	n/a
39	chr14:69726254-69726304	IMR90	lung:	fetal
40	chr14:69726254-69726304	T-47D	breast:	n/a
41	chr14:69726254-69726304	HNPCEpiC	eye:	n/a
42	chr14:69726251-69726301	HCF	heart:	n/a
43	chr14:69726251-69726301	GM19239	blood:	n/a
44	chr14:69726251-69726301	AG10803	skin:	n/a
45	chr14:69726254-69726304	PFSK-1	brain:	n/a
46	chr14:69726251-69726301	GM06990	blood:	n/a
47	chr14:69726254-69726304	GM06990	blood:	n/a
48	chr14:69726254-69726304	HEK293	kidney:	embryo
49	chr14:69726251-69726301	NHBE	bronchial:	n/a
50	chr14:69726254-69726304	A549	lung:	n/a

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

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:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69709400-69726400	Weak transcription	Gastric	stomach
2	chr14:69725400-69726400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr14:69725400-69728400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr14:69725600-69726400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
5	chr14:69725600-69728400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr14:69725800-69726400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr14:69725800-69726400	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
8	chr14:69725800-69726400	Bivalent Enhancer	Stomach Mucosa	stomach
9	chr14:69725800-69728600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
10	chr14:69726000-69726400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
11	chr14:69726000-69726400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
12	chr14:69726000-69726400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
13	chr14:69726000-69726400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr14:69726000-69726400	Flanking Active TSS	Brain Angular Gyrus	brain
15	chr14:69726000-69726400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
16	chr14:69726000-69726400	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
17	chr14:69726000-69726400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
18	chr14:69726000-69726400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
19	chr14:69726000-69726400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
20	chr14:69726000-69726400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
21	chr14:69726000-69726400	Bivalent Enhancer	Fetal Thymus	thymus
22	chr14:69726000-69726400	Flanking Active TSS	Right Ventricle	heart
23	chr14:69726000-69726400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
24	chr14:69726000-69726400	Flanking Bivalent TSS/Enh	HepG2	liver
25	chr14:69726000-69726400	Flanking Active TSS	NHDF-Ad	bronchial
26	chr14:69726000-69726600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr14:69726000-69726600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr14:69726000-69726600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
29	chr14:69726000-69726600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
30	chr14:69726000-69726600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
31	chr14:69726000-69726600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
32	chr14:69726000-69726800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr14:69726000-69727000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
34	chr14:69726000-69727000	Enhancers	Spleen	Spleen
35	chr14:69726000-69727400	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
36	chr14:69726000-69727600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
37	chr14:69726000-69727800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
38	chr14:69726000-69727800	Active TSS	A549	lung
39	chr14:69726000-69727800	Bivalent/Poised TSS	Osteobl	bone
40	chr14:69726000-69728200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
41	chr14:69726000-69728400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
42	chr14:69726000-69728400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr14:69726000-69728400	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr14:69726000-69728600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr14:69726000-69728600	Active TSS	Right Atrium	heart
46	chr14:69726200-69726400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr14:69726200-69726400	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr14:69726200-69726400	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr14:69726200-69726400	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr14:69726200-69726400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links