Variant report

Variant	rs559303137
Chromosome Location	chr4:85503948-85503949
allele	C/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	MAZ	chr4:85503255-85504622	IMR90	lung:	n/a	chr4:85503952-85503962
2	RCOR1	chr4:85503335-85504348	K562	blood:	n/a	n/a
3	SP4	chr4:85503425-85504160	H1-hESC	embryonic stem cell:	n/a	chr4:85503952-85503968 chr4:85503865-85503881 chr4:85504029-85504045 chr4:85504031-85504047 chr4:85503954-85503970
4	MAX	chr4:85503574-85504583	HepG2	liver:	n/a	chr4:85503952-85503962
5	MAX	chr4:85503288-85505307	ECC-1	luminal epithelium:	n/a	chr4:85503952-85503962
6	MAX	chr4:85503415-85505025	HepG2	liver:	n/a	chr4:85503952-85503962
7	NFIC	chr4:85503270-85504020	ECC-1	luminal epithelium:	n/a	n/a
8	MYC	chr4:85503476-85504175	MCF-7	breast:	n/a	chr4:85503952-85503962
9	EGR1	chr4:85503495-85504216	MCF-7	breast:	n/a	chr4:85503868-85503878 chr4:85503952-85503965 chr4:85503952-85503966 chr4:85503955-85503964 chr4:85503953-85503967 chr4:85503952-85503965 chr4:85503951-85503966 chr4:85503870-85503883 chr4:85503907-85503921 chr4:85503955-85503965 chr4:85503952-85503965 chr4:85503953-85503964 chr4:85503952-85503965 chr4:85503999-85504009 chr4:85503871-85503882
10	POLR2A	chr4:85503600-85504696	H1-neurons	neurons:	n/a	n/a
11	GTF2F1	chr4:85503372-85503968	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAX	chr4:85503345-85504108	MCF-7	breast:	n/a	chr4:85503952-85503962
13	TCF12	chr4:85503324-85504408	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr4:85503922-85503974	Gliobla	brain:	n/a	n/a
15	CREB1	chr4:85503529-85504260	HepG2	liver:	n/a	chr4:85503980-85503993
16	SP1	chr4:85503141-85504958	HCT-116	colon:	n/a	chr4:85503998-85504010 chr4:85504718-85504732 chr4:85503869-85503878 chr4:85504035-85504044 chr4:85504205-85504214 chr4:85504033-85504045 chr4:85504000-85504009 chr4:85503958-85503967 chr4:85504034-85504044 chr4:85503868-85503877 chr4:85504204-85504216 chr4:85503995-85504009 chr4:85504030-85504044 chr4:85504216-85504230 chr4:85504033-85504045 chr4:85503999-85504008 chr4:85504035-85504044 chr4:85503956-85503968 chr4:85503957-85503967 chr4:85503867-85503879 chr4:85503998-85504010 chr4:85504205-85504214 chr4:85503890-85503904 chr4:85503957-85503967 chr4:85504034-85504043 chr4:85503958-85503967 chr4:85504083-85504096 chr4:85503956-85503968 chr4:85504034-85504044 chr4:85503867-85503879 chr4:85503957-85503966 chr4:85504206-85504215 chr4:85503874-85503888
17	MAX	chr4:85503516-85504472	H1-hESC	embryonic stem cell:	n/a	chr4:85503952-85503962
18	TCF12	chr4:85503266-85504434	MCF-7	breast:	n/a	n/a
19	NR2F2	chr4:85503235-85504048	MCF-7	breast:	n/a	chr4:85503506-85503521
20	TBP	chr4:85503430-85504405	H1-hESC	embryonic stem cell:	n/a	n/a
21	MAZ	chr4:85503830-85504030	GM12878	blood:	n/a	chr4:85503952-85503962
22	CEBPD	chr4:85503820-85504054	HepG2	liver:	n/a	n/a
23	TCF7L2	chr4:85503421-85505179	HCT-116	colon:	n/a	n/a
24	POLR2A	chr4:85503638-85504338	HepG2	liver:	n/a	n/a
25	CHD2	chr4:85503408-85504825	H1-hESC	embryonic stem cell:	n/a	chr4:85504204-85504214 chr4:85503897-85503907 chr4:85504287-85504297
26	GATA3	chr4:85503289-85504114	MCF-7	breast:	n/a	n/a
27	EGR1	chr4:85503772-85504126	K562	blood:	n/a	chr4:85503868-85503878 chr4:85503952-85503965 chr4:85503952-85503966 chr4:85503955-85503964 chr4:85503953-85503967 chr4:85503952-85503965 chr4:85503951-85503966 chr4:85503870-85503883 chr4:85503907-85503921 chr4:85503955-85503965 chr4:85503952-85503965 chr4:85503953-85503964 chr4:85503952-85503965 chr4:85503999-85504009 chr4:85503871-85503882
28	ATF3	chr4:85503755-85504077	K562	blood:	n/a	chr4:85503979-85503994 chr4:85503981-85503992 chr4:85503983-85503990 chr4:85503981-85503994 chr4:85503983-85503991 chr4:85503981-85503992 chr4:85503971-85503991 chr4:85503957-85503966 chr4:85503979-85503992 chr4:85503983-85503993 chr4:85503982-85504002
29	POLR2A	chr4:85503543-85505328	H1-neurons	neurons:	n/a	n/a
30	REST	chr4:85503380-85505244	H1-neurons	neurons:	n/a	chr4:85503763-85503770
31	TEAD4	chr4:85503309-85504105	HCT-116	colon:	n/a	n/a
32	TAF7	chr4:85503335-85503972	H1-hESC	embryonic stem cell:	n/a	n/a
33	CREB1	chr4:85503476-85504214	ECC-1	luminal epithelium:	n/a	chr4:85503980-85503993
34	BHLHE40	chr4:85503839-85504313	K562	blood:	n/a	chr4:85503948-85503964
35	MAX	chr4:85503242-85505335	HCT-116	colon:	n/a	chr4:85503952-85503962
36	POLR2A	chr4:85503419-85504910	ECC-1	luminal epithelium:	n/a	n/a
37	POLR2A	chr4:85503268-85505172	H1-hESC	embryonic stem cell:	n/a	n/a
38	RFX5	chr4:85503800-85504070	HepG2	liver:	n/a	n/a
39	EGR1	chr4:85503481-85504141	ECC-1	luminal epithelium:	n/a	chr4:85503868-85503878 chr4:85503952-85503965 chr4:85503952-85503966 chr4:85503955-85503964 chr4:85503953-85503967 chr4:85503952-85503965 chr4:85503951-85503966 chr4:85503870-85503883 chr4:85503907-85503921 chr4:85503955-85503965 chr4:85503952-85503965 chr4:85503953-85503964 chr4:85503952-85503965 chr4:85503999-85504009 chr4:85503871-85503882
40	POLR2A	chr4:85503649-85503974	HepG2	liver:	n/a	n/a
41	CREB1	chr4:85503857-85504082	A549	lung:	n/a	chr4:85503980-85503993
42	NANOG	chr4:85503540-85504212	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr4:85503620-85504768	MCF10A-Er-Src	breast:	n/a	n/a
44	EP300	chr4:85503359-85504030	ECC-1	luminal epithelium:	n/a	chr4:85503943-85503959
45	POLR2A	chr4:85503346-85503995	H1-hESC	embryonic stem cell:	n/a	n/a
46	FOXP2	chr4:85503800-85504143	PFSK-1	brain:	n/a	n/a
47	ATF2	chr4:85503453-85504139	H1-hESC	embryonic stem cell:	n/a	chr4:85503979-85503993 chr4:85503981-85503992
48	MAX	chr4:85503328-85505074	ECC-1	luminal epithelium:	n/a	chr4:85503952-85503962
49	MAZ	chr4:85503759-85504379	Hela-S3	cervix:	n/a	chr4:85503952-85503962
50	FOS	chr4:85503581-85503958	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:85503502..85505436-chr4:85887662..85889953,2	MCF-7	breast:
2	chr4:85503339..85505737-chr4:85885750..85887907,3	MCF-7	breast:
3	chr4:85502738..85504984-chr4:89443554..89446248,2	MCF-7	breast:
4	chr4:85502095..85504944-chr4:85602108..85604379,3	MCF-7	breast:

Variant related genes	Relation type
CDS1	TF binding region
ENSG00000163625	Chromatin interaction
ENSG00000138641	Chromatin interaction
ENSG00000145337	Chromatin interaction
ENSG00000180769	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3427170	chr4:85503153-85505701	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:85503200-85504000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr4:85503200-85505000	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr4:85503200-85505000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:85503200-85505400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr4:85503200-85505600	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr4:85503400-85504000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
7	chr4:85503400-85504000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
8	chr4:85503400-85504000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr4:85503400-85504000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
10	chr4:85503400-85504000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
11	chr4:85503400-85504000	Flanking Active TSS	Lung	lung
12	chr4:85503400-85504000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
13	chr4:85503400-85504200	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr4:85503400-85504200	Enhancers	Spleen	Spleen
15	chr4:85503400-85504600	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr4:85503400-85504600	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr4:85503400-85504600	Bivalent/Poised TSS	NHLF	lung
18	chr4:85503400-85504800	Active TSS	Fetal Brain Female	brain
19	chr4:85503400-85505000	Bivalent/Poised TSS	Osteobl	bone
20	chr4:85503400-85505200	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr4:85503400-85505200	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr4:85503400-85505400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr4:85503400-85505400	Active TSS	Placenta Amnion	Placenta Amnion
24	chr4:85503400-85505600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr4:85503400-85505800	Active TSS	Brain Angular Gyrus	brain
26	chr4:85503400-85505800	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr4:85503600-85504000	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr4:85503600-85504000	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
29	chr4:85503600-85504000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr4:85503600-85504000	Bivalent/Poised TSS	Fetal Lung	lung
31	chr4:85503600-85504000	Bivalent/Poised TSS	GM12878-XiMat	blood
32	chr4:85503600-85504000	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
33	chr4:85503600-85504200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr4:85503600-85504400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:85503600-85504400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr4:85503600-85504400	Bivalent/Poised TSS	Thymus	Thymus
37	chr4:85503600-85504400	Active TSS	A549	lung
38	chr4:85503600-85504600	Active TSS	Primary T cells from cord blood	blood
39	chr4:85503600-85504600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
40	chr4:85503600-85504600	Bivalent/Poised TSS	Psoas Muscle	Psoas
41	chr4:85503600-85504800	Active TSS	HUES64 Cell Line	embryonic stem cell
42	chr4:85503600-85504800	Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr4:85503600-85504800	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr4:85503600-85504800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr4:85503600-85504800	Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr4:85503600-85504800	Active TSS	Left Ventricle	heart
47	chr4:85503600-85504800	Active TSS	Hela-S3	cervix
48	chr4:85503600-85504800	Bivalent/Poised TSS	HSMM	muscle
49	chr4:85503600-85505000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr4:85503600-85505000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell

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