Variant report

Variant	rs575474481
Chromosome Location	chr4:85503779-85503780
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	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	YY1	chr4:85503399-85503941	ECC-1	luminal epithelium:	n/a	chr4:85503872-85503881 chr4:85503855-85503869 chr4:85503858-85503872
5	MAX	chr4:85503574-85504583	HepG2	liver:	n/a	chr4:85503952-85503962
6	MAX	chr4:85503288-85505307	ECC-1	luminal epithelium:	n/a	chr4:85503952-85503962
7	MAX	chr4:85503415-85505025	HepG2	liver:	n/a	chr4:85503952-85503962
8	NFIC	chr4:85503270-85504020	ECC-1	luminal epithelium:	n/a	n/a
9	MYC	chr4:85503476-85504175	MCF-7	breast:	n/a	chr4:85503952-85503962
10	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
11	TCF7L2	chr4:85503502-85503922	MCF-7	breast:	n/a	n/a
12	POLR2A	chr4:85503600-85504696	H1-neurons	neurons:	n/a	n/a
13	GTF2F1	chr4:85503372-85503968	H1-hESC	embryonic stem cell:	n/a	n/a
14	MAX	chr4:85503345-85504108	MCF-7	breast:	n/a	chr4:85503952-85503962
15	TCF12	chr4:85503324-85504408	ECC-1	luminal epithelium:	n/a	n/a
16	CREB1	chr4:85503529-85504260	HepG2	liver:	n/a	chr4:85503980-85503993
17	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
18	MAX	chr4:85503516-85504472	H1-hESC	embryonic stem cell:	n/a	chr4:85503952-85503962
19	TCF12	chr4:85503266-85504434	MCF-7	breast:	n/a	n/a
20	NR2F2	chr4:85503235-85504048	MCF-7	breast:	n/a	chr4:85503506-85503521
21	TBP	chr4:85503430-85504405	H1-hESC	embryonic stem cell:	n/a	n/a
22	YY1	chr4:85503406-85503940	ECC-1	luminal epithelium:	n/a	chr4:85503872-85503881 chr4:85503855-85503869 chr4:85503858-85503872
23	TEAD4	chr4:85503428-85503894	MCF-7	breast:	n/a	n/a
24	ESR1	chr4:85503480-85503803	T-47D	breast:	n/a	n/a
25	TCF7L2	chr4:85503421-85505179	HCT-116	colon:	n/a	n/a
26	POLR2A	chr4:85503638-85504338	HepG2	liver:	n/a	n/a
27	KAP1	chr4:85503332-85503841	HEK293	kidney:	n/a	n/a
28	CHD2	chr4:85503408-85504825	H1-hESC	embryonic stem cell:	n/a	chr4:85504204-85504214 chr4:85503897-85503907 chr4:85504287-85504297
29	GATA3	chr4:85503289-85504114	MCF-7	breast:	n/a	n/a
30	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
31	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
32	JUND	chr4:85503333-85503869	T-47D	breast:	n/a	n/a
33	POLR2A	chr4:85503543-85505328	H1-neurons	neurons:	n/a	n/a
34	REST	chr4:85503380-85505244	H1-neurons	neurons:	n/a	chr4:85503763-85503770
35	TEAD4	chr4:85503309-85504105	HCT-116	colon:	n/a	n/a
36	TAF7	chr4:85503335-85503972	H1-hESC	embryonic stem cell:	n/a	n/a
37	CREB1	chr4:85503476-85504214	ECC-1	luminal epithelium:	n/a	chr4:85503980-85503993
38	MAX	chr4:85503242-85505335	HCT-116	colon:	n/a	chr4:85503952-85503962
39	POLR2A	chr4:85503419-85504910	ECC-1	luminal epithelium:	n/a	n/a
40	ESR1	chr4:85503427-85503865	T-47D	breast:	n/a	n/a
41	POLR2A	chr4:85503268-85505172	H1-hESC	embryonic stem cell:	n/a	n/a
42	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
43	POLR2A	chr4:85503649-85503974	HepG2	liver:	n/a	n/a
44	TEAD4	chr4:85503347-85503889	MCF-7	breast:	n/a	n/a
45	EP300	chr4:85503375-85503889	T-47D	breast:	n/a	n/a
46	NANOG	chr4:85503540-85504212	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr4:85503620-85504768	MCF10A-Er-Src	breast:	n/a	n/a
48	EP300	chr4:85503359-85504030	ECC-1	luminal epithelium:	n/a	chr4:85503943-85503959
49	POLR2A	chr4:85503346-85503995	H1-hESC	embryonic stem cell:	n/a	n/a
50	CHD1	chr4:85503413-85503789	H1-hESC	embryonic stem cell:	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	chr4:85483371..85486524-chr4:85499401..85503831,3	MCF-7	breast:
5	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:85503000-85503800	Flanking Active TSS	HMEC	breast
2	chr4:85503200-85503800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:85503200-85503800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
4	chr4:85503200-85503800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
5	chr4:85503200-85503800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr4:85503200-85503800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr4:85503200-85503800	Flanking Active TSS	Fetal Intestine Small	intestine
8	chr4:85503200-85503800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
9	chr4:85503200-85503800	Flanking Bivalent TSS/Enh	HepG2	liver
10	chr4:85503200-85503800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
11	chr4:85503200-85503800	Flanking Active TSS	NHEK	skin
12	chr4:85503200-85504000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr4:85503200-85505000	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr4:85503200-85505000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:85503200-85505400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr4:85503200-85505600	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr4:85503400-85503800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
18	chr4:85503400-85503800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr4:85503400-85503800	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:85503400-85503800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr4:85503400-85503800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr4:85503400-85503800	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
23	chr4:85503400-85503800	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
24	chr4:85503400-85503800	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
25	chr4:85503400-85503800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
26	chr4:85503400-85503800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr4:85503400-85503800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
28	chr4:85503400-85503800	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr4:85503400-85503800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr4:85503400-85503800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr4:85503400-85503800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:85503400-85503800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr4:85503400-85503800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr4:85503400-85503800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
35	chr4:85503400-85503800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr4:85503400-85503800	Flanking Active TSS	Colon Smooth Muscle	Colon
37	chr4:85503400-85503800	Flanking Active TSS	Duodenum Mucosa	Duodenum
38	chr4:85503400-85503800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
39	chr4:85503400-85503800	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
40	chr4:85503400-85503800	Flanking Active TSS	Placenta	Placenta
41	chr4:85503400-85503800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
42	chr4:85503400-85503800	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
43	chr4:85503400-85503800	Flanking Active TSS	Gastric	stomach
44	chr4:85503400-85503800	Flanking Active TSS	Pancreas	Pancrea
45	chr4:85503400-85503800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
46	chr4:85503400-85503800	Flanking Bivalent TSS/Enh	Rectal Smooth Muscle	rectum
47	chr4:85503400-85503800	Flanking Active TSS	Right Atrium	heart
48	chr4:85503400-85503800	Flanking Active TSS	Right Ventricle	heart
49	chr4:85503400-85503800	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr4:85503400-85503800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle

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