Variant report

Variant	rs142050731
Chromosome Location	chr14:69726428-69726429
allele	A/C
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	CTCF	chr14:69726390-69726726	HepG2	liver:	n/a	n/a
2	MAX	chr14:69726016-69726640	ECC-1	luminal epithelium:	n/a	chr14:69726367-69726377
3	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
4	TBP	chr14:69726391-69726668	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTBP2	chr14:69726042-69726768	H1-hESC	embryonic stem cell:	n/a	n/a
6	ZBTB7A	chr14:69726202-69726787	ECC-1	luminal epithelium:	n/a	chr14:69726465-69726476 chr14:69726464-69726475
7	CTCF	chr14:69725565-69727375	A549	lung:	n/a	chr14:69726982-69726991
8	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
9	MAX	chr14:69726174-69726583	H1-hESC	embryonic stem cell:	n/a	chr14:69726367-69726377
10	POLR2A	chr14:69726317-69726664	H1-hESC	embryonic stem cell:	n/a	n/a
11	ZBTB7A	chr14:69726381-69726602	K562	blood:	n/a	chr14:69726465-69726476 chr14:69726464-69726475
12	CTCF	chr14:69725855-69727377	SK-N-SH	brain:	n/a	chr14:69726982-69726991
13	MAX	chr14:69726092-69727361	MCF-7	breast:	n/a	chr14:69726367-69726377
14	RAD21	chr14:69726392-69726647	HepG2	liver:	n/a	chr14:69726420-69726433
15	BACH1	chr14:69726369-69727680	H1-hESC	embryonic stem cell:	n/a	n/a
16	HDAC2	chr14:69726336-69727313	MCF-7	breast:	n/a	chr14:69726787-69726796
17	CTCF	chr14:69726380-69726530	HVMF	connective:	n/a	n/a
18	CTCF	chr14:69726280-69726880	MCF-7	breast:	n/a	n/a
19	CTCF	chr14:69726370-69726759	K562	blood:	n/a	n/a
20	YY1	chr14:69726405-69726765	GM12891	blood:	n/a	chr14:69726725-69726739 chr14:69726445-69726459
21	CTCF	chr14:69726409-69726731	IMR90	lung:	n/a	n/a
22	CTCF	chr14:69726323-69726722	HepG2	liver:	n/a	n/a
23	RAD21	chr14:69726277-69726800	H1-hESC	embryonic stem cell:	n/a	chr14:69726420-69726433
24	MAX	chr14:69726064-69728368	A549	lung:	n/a	chr14:69726367-69726377 chr14:69728085-69728095 chr14:69727394-69727404
25	CTCF	chr14:69726406-69726739	A549	lung:	n/a	n/a
26	CTCF	chr14:69726400-69726550	GM12869	blood:	n/a	n/a
27	EGR1	chr14:69726348-69726575	K562	blood:	n/a	chr14:69726368-69726378 chr14:69726549-69726559 chr14:69726546-69726559
28	CTCF	chr14:69726340-69726490	HAc	cerebellar:	n/a	n/a
29	MAX	chr14:69726332-69727374	A549	lung:	n/a	chr14:69726367-69726377
30	CTCF	chr14:69726420-69726570	GM12873	blood:	n/a	n/a
31	POLR2A	chr14:69725866-69727275	H1-neurons	neurons:	n/a	n/a
32	CTCF	chr14:69726369-69726794	K562	blood:	n/a	n/a
33	CTCF	chr14:69726343-69726789	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr14:69726381-69726769	MCF-7	breast:	n/a	n/a
35	E2F6	chr14:69725817-69726645	H1-hESC	embryonic stem cell:	n/a	chr14:69726374-69726384 chr14:69726549-69726559
36	REST	chr14:69725769-69728816	H1-neurons	neurons:	n/a	chr14:69727673-69727686 chr14:69728737-69728746 chr14:69726368-69726381 chr14:69726451-69726464
37	JUND	chr14:69726398-69726706	H1-hESC	embryonic stem cell:	n/a	chr14:69726489-69726497
38	SMC3	chr14:69726285-69728318	SK-N-SH	brain:	n/a	chr14:69726979-69726989
39	CTCF	chr14:69726395-69726660	T-47D	breast:	n/a	n/a
40	ZBTB7A	chr14:69726106-69727190	ECC-1	luminal epithelium:	n/a	chr14:69726465-69726476 chr14:69726464-69726475
41	ZBTB7A	chr14:69726342-69726630	HepG2	liver:	n/a	chr14:69726465-69726476 chr14:69726464-69726475
42	HDAC2	chr14:69726381-69726793	HepG2	liver:	n/a	n/a
43	POLR2A	chr14:69726171-69728123	H1-neurons	neurons:	n/a	n/a
44	CTCF	chr14:69726273-69726799	H1-hESC	embryonic stem cell:	n/a	n/a
45	E2F6	chr14:69725844-69726576	H1-hESC	embryonic stem cell:	n/a	chr14:69726374-69726384 chr14:69726549-69726559
46	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
47	MAX	chr14:69726035-69726551	ECC-1	luminal epithelium:	n/a	chr14:69726367-69726377
48	NFIC	chr14:69726338-69726925	ECC-1	luminal epithelium:	n/a	chr14:69726601-69726617

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:69726397-69726447	GM06990	blood:	n/a
2	chr14:69726397-69726447	Caco-2	colon:	n/a
3	chr14:69726397-69726447	CMK	blood:	n/a
4	chr14:69726397-69726447	U87	brain:	n/a
5	chr14:69726397-69726447	AG04450	lung:	fetal
6	chr14:69726397-69726447	NHBE	bronchial:	n/a
7	chr14:69726397-69726447	BJ	skin:	n/a
8	chr14:69726397-69726447	NT2-D1	testis:	n/a
9	chr14:69726397-69726447	SK-N-SH_RA	brain:	n/a
10	chr14:69726397-69726447	GM19239	blood:	n/a
11	chr14:69726397-69726447	HPAEpiC	pulmonary alveolar:	n/a
12	chr14:69726397-69726447	ProgFib	skin:	n/a
13	chr14:69726397-69726447	ovcar-3	ovarian:	n/a
14	chr14:69726397-69726447	AoSMC	blood vessel:	n/a
15	chr14:69726397-69726447	AG09309	skin:	n/a
16	chr14:69726397-69726447	LNCaP	prostate:	n/a
17	chr14:69726397-69726447	RPTEC	kidney:	n/a
18	chr14:69726397-69726447	HCT-116	colon:	n/a
19	chr14:69726397-69726447	HCF	heart:	n/a
20	chr14:69726397-69726447	PFSK-1	brain:	n/a
21	chr14:69726397-69726447	K562	blood:	n/a
22	chr14:69726397-69726447	GM12892	blood:	n/a
23	chr14:69726397-69726447	NH-A	brain:	n/a
24	chr14:69726397-69726447	HRPEpiC	eye:	n/a
25	chr14:69726397-69726447	MCF10A-Er-Src	breast:	n/a
26	chr14:69726397-69726447	HL-60	blood:	n/a
27	chr14:69726397-69726447	GM12878	blood:	n/a
28	chr14:69726397-69726447	AG04449	skin:	fetal
29	chr14:69726397-69726447	HCPEpiC	choroid plexus:	n/a
30	chr14:69726397-69726447	HIPEpiC	eye:	n/a
31	chr14:69726397-69726447	HAEpiC	amniotic membrane:	n/a
32	chr14:69726397-69726447	MCF-7	breast:	n/a
33	chr14:69726397-69726447	SAEC	small airway:	n/a
34	chr14:69726397-69726447	HMEC	breast:	n/a
35	chr14:69726397-69726447	PANC-1	pancreas:	n/a
36	chr14:69726397-69726447	PrEC	prostate:	n/a
37	chr14:69726397-69726447	NHDF-neo	bronchial:	n/a
38	chr14:69726397-69726447	BE2_C	brain:	n/a
39	chr14:69726397-69726447	AG09319	gingival:	n/a
40	chr14:69726397-69726447	IMR90	lung:	fetal
41	chr14:69726397-69726447	Jurkat	blood:	n/a
42	chr14:69726397-69726447	H1-hESC	embryonic stem cell:	embryo
43	chr14:69726397-69726447	HepG2	liver:	n/a
44	chr14:69726397-69726447	NB4	blood:	n/a
45	chr14:69726397-69726447	HNPCEpiC	eye:	n/a
46	chr14:69726397-69726447	HEK293	kidney:	embryo
47	chr14:69726397-69726447	Hela-S3	cervix:	n/a
48	chr14:69726397-69726447	HUVEC	blood vessel:	n/a
49	chr14:69726397-69726447	A549	lung:	n/a
50	chr14:69726397-69726447	HEEpiC	esophagus:	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: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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