Variant report

Variant	rs374573850
Chromosome Location	chr14:69726182-69726183
allele	A/G
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	CTBP2	chr14:69726042-69726768	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAFK	chr14:69725931-69726294	IMR90	lung:	n/a	chr14:69726106-69726121
4	CTCF	chr14:69725565-69727375	A549	lung:	n/a	chr14:69726982-69726991
5	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
6	MAX	chr14:69726174-69726583	H1-hESC	embryonic stem cell:	n/a	chr14:69726367-69726377
7	MAFF	chr14:69725928-69726299	HepG2	liver:	n/a	chr14:69726104-69726122
8	CTCF	chr14:69725855-69727377	SK-N-SH	brain:	n/a	chr14:69726982-69726991
9	MAX	chr14:69726092-69727361	MCF-7	breast:	n/a	chr14:69726367-69726377
10	MAX	chr14:69726064-69728368	A549	lung:	n/a	chr14:69726367-69726377 chr14:69728085-69728095 chr14:69727394-69727404
11	MAFK	chr14:69725933-69726317	HepG2	liver:	n/a	chr14:69726106-69726121
12	POLR2A	chr14:69725866-69727275	H1-neurons	neurons:	n/a	n/a
13	MAFK	chr14:69725950-69726280	K562	blood:	n/a	chr14:69726106-69726121
14	MAFK	chr14:69725929-69726302	HepG2	liver:	n/a	chr14:69726106-69726121
15	CTCF	chr14:69726160-69726310	GM12864	blood:	n/a	n/a
16	E2F6	chr14:69725817-69726645	H1-hESC	embryonic stem cell:	n/a	chr14:69726374-69726384 chr14:69726549-69726559
17	REST	chr14:69725769-69728816	H1-neurons	neurons:	n/a	chr14:69727673-69727686 chr14:69728737-69728746 chr14:69726368-69726381 chr14:69726451-69726464
18	ZBTB7A	chr14:69726106-69727190	ECC-1	luminal epithelium:	n/a	chr14:69726465-69726476 chr14:69726464-69726475
19	POLR2A	chr14:69726171-69728123	H1-neurons	neurons:	n/a	n/a
20	MAFF	chr14:69725948-69726272	K562	blood:	n/a	chr14:69726104-69726122
21	CTCF	chr14:69726160-69726310	GM06990	blood:	n/a	n/a
22	E2F6	chr14:69725844-69726576	H1-hESC	embryonic stem cell:	n/a	chr14:69726374-69726384 chr14:69726549-69726559
23	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
24	MAX	chr14:69726035-69726551	ECC-1	luminal epithelium:	n/a	chr14:69726367-69726377

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
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:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69709400-69726400	Weak transcription	Gastric	stomach
2	chr14:69714800-69726200	Weak transcription	Aorta	Aorta
3	chr14:69725400-69726200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:69725400-69726400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:69725400-69728400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr14:69725600-69726200	Enhancers	Fetal Brain Male	brain
7	chr14:69725600-69726400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
8	chr14:69725600-69728400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
9	chr14:69725800-69726200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr14:69725800-69726200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
11	chr14:69725800-69726200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
12	chr14:69725800-69726200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
13	chr14:69725800-69726200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr14:69725800-69726200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr14:69725800-69726200	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr14:69725800-69726200	Flanking Active TSS	Brain Anterior Caudate	brain
17	chr14:69725800-69726200	Flanking Active TSS	Fetal Heart	heart
18	chr14:69725800-69726200	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
19	chr14:69725800-69726200	Enhancers	Left Ventricle	heart
20	chr14:69725800-69726200	Enhancers	Ovary	ovary
21	chr14:69725800-69726200	Enhancers	Pancreas	Pancrea
22	chr14:69725800-69726200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
23	chr14:69725800-69726400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr14:69725800-69726400	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
25	chr14:69725800-69726400	Bivalent Enhancer	Stomach Mucosa	stomach
26	chr14:69725800-69728600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
27	chr14:69726000-69726200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr14:69726000-69726200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr14:69726000-69726200	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:69726000-69726200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr14:69726000-69726200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr14:69726000-69726200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr14:69726000-69726200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr14:69726000-69726200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
35	chr14:69726000-69726200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
36	chr14:69726000-69726200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
37	chr14:69726000-69726200	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
38	chr14:69726000-69726200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
39	chr14:69726000-69726200	Bivalent Enhancer	Liver	Liver
40	chr14:69726000-69726200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
41	chr14:69726000-69726200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr14:69726000-69726200	Enhancers	Brain Substantia Nigra	brain
43	chr14:69726000-69726200	Bivalent/Poised TSS	Colonic Mucosa	Colon
44	chr14:69726000-69726200	Active TSS	Fetal Brain Female	brain
45	chr14:69726000-69726200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
46	chr14:69726000-69726200	Flanking Bivalent TSS/Enh	Fetal Lung	lung
47	chr14:69726000-69726200	Bivalent Enhancer	Placenta	Placenta
48	chr14:69726000-69726200	Bivalent Enhancer	Psoas Muscle	Psoas
49	chr14:69726000-69726200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
50	chr14:69726000-69726200	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum

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