Variant report

Variant	rs530713928
Chromosome Location	chr4:85503381-85503382
allele	A/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	MAX	chr4:85503288-85505307	ECC-1	luminal epithelium:	n/a	chr4:85503952-85503962
4	NFIC	chr4:85503270-85504020	ECC-1	luminal epithelium:	n/a	n/a
5	GTF2F1	chr4:85503372-85503968	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr4:85503345-85504108	MCF-7	breast:	n/a	chr4:85503952-85503962
7	TCF12	chr4:85503324-85504408	ECC-1	luminal epithelium:	n/a	n/a
8	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
9	TCF12	chr4:85503266-85504434	MCF-7	breast:	n/a	n/a
10	NR2F2	chr4:85503235-85504048	MCF-7	breast:	n/a	chr4:85503506-85503521
11	KAP1	chr4:85503332-85503841	HEK293	kidney:	n/a	n/a
12	GATA3	chr4:85503289-85504114	MCF-7	breast:	n/a	n/a
13	JUND	chr4:85503333-85503869	T-47D	breast:	n/a	n/a
14	REST	chr4:85503380-85505244	H1-neurons	neurons:	n/a	chr4:85503763-85503770
15	TEAD4	chr4:85503309-85504105	HCT-116	colon:	n/a	n/a
16	TAF7	chr4:85503335-85503972	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAX	chr4:85503242-85505335	HCT-116	colon:	n/a	chr4:85503952-85503962
18	POLR2A	chr4:85503268-85505172	H1-hESC	embryonic stem cell:	n/a	n/a
19	TEAD4	chr4:85503347-85503889	MCF-7	breast:	n/a	n/a
20	EP300	chr4:85503375-85503889	T-47D	breast:	n/a	n/a
21	EP300	chr4:85503359-85504030	ECC-1	luminal epithelium:	n/a	chr4:85503943-85503959
22	POLR2A	chr4:85503346-85503995	H1-hESC	embryonic stem cell:	n/a	n/a
23	ZNF217	chr4:85503370-85503864	MCF-7	breast:	n/a	n/a
24	MAX	chr4:85503328-85505074	ECC-1	luminal epithelium:	n/a	chr4:85503952-85503962
25	TEAD4	chr4:85503337-85504086	HCT-116	colon:	n/a	n/a
26	CREB1	chr4:85503293-85504510	H1-hESC	embryonic stem cell:	n/a	chr4:85503980-85503993
27	EGR1	chr4:85503336-85504643	HCT-116	colon:	n/a	chr4:85503868-85503878 chr4:85504476-85504486 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 chr4:85504465-85504475 chr4:85503953-85503964 chr4:85503952-85503965 chr4:85503999-85504009 chr4:85503871-85503882
28	POLR2A	chr4:85503368-85505069	MCF-7	breast:	n/a	n/a
29	RAD21	chr4:85503261-85503969	H1-hESC	embryonic stem cell:	n/a	n/a
30	MAX	chr4:85503317-85504499	MCF-7	breast:	n/a	chr4:85503952-85503962
31	POLR2A	chr4:85503364-85503956	H1-hESC	embryonic stem cell:	n/a	n/a
32	GATA3	chr4:85503358-85503864	T-47D	breast:	n/a	n/a
33	TAF1	chr4:85503320-85505202	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr4:85503326-85503903	H1-hESC	embryonic stem cell:	n/a	n/a
35	JUN	chr4:85503222-85504307	K562	blood:	n/a	chr4:85503982-85503991 chr4:85503998-85504007
36	JUND	chr4:85503312-85504101	MCF-7	breast:	n/a	chr4:85503982-85503991 chr4:85503998-85504007
37	CBX3	chr4:85503255-85504472	HCT-116	colon:	n/a	n/a
38	POLR2A	chr4:85503343-85505172	MCF-7	breast:	n/a	n/a
39	MAX	chr4:85503204-85505146	HCT-116	colon:	n/a	chr4:85503952-85503962
40	SIN3AK20	chr4:85503366-85504111	MCF-7	breast:	n/a	n/a
41	TCF12	chr4:85503218-85505015	ECC-1	luminal epithelium:	n/a	n/a
42	USF2	chr4:85503338-85503791	H1-hESC	embryonic stem cell:	n/a	n/a
43	SIN3A	chr4:85503285-85505494	H1-hESC	embryonic stem cell:	n/a	n/a
44	HA-E2F1	chr4:85503307-85505182	MCF-7	breast:	n/a	chr4:85504038-85504048 chr4:85503957-85503966 chr4:85503869-85503878 chr4:85503981-85503990 chr4:85503898-85503910 chr4:85503864-85503874 chr4:85503983-85503992 chr4:85503999-85504008
45	NR2F2	chr4:85503331-85504001	MCF-7	breast:	n/a	chr4:85503506-85503521
46	NFIC	chr4:85503323-85504066	ECC-1	luminal epithelium:	n/a	n/a
47	SP1	chr4:85503328-85504260	H1-hESC	embryonic stem cell:	n/a	chr4:85503998-85504010 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
48	CREB1	chr4:85503314-85504295	H1-hESC	embryonic stem cell:	n/a	chr4:85503980-85503993
49	CTCF	chr4:85503300-85503450	HMEC	breast:	n/a	n/a
50	TEAD4	chr4:85503368-85504176	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:85503339..85505737-chr4:85885750..85887907,3	MCF-7	breast:
2	chr4:85502738..85504984-chr4:89443554..89446248,2	MCF-7	breast:
3	chr4:85502040..85503773-chr4:85544764..85547239,2	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
ENSG00000180769	Chromatin interaction
ENSG00000138641	Chromatin interaction
ENSG00000163625	Chromatin interaction
ENSG00000145337	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:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:85489800-85503400	Weak transcription	Lung	lung
2	chr4:85495600-85503400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr4:85495600-85503400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr4:85495800-85503400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr4:85501000-85503400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:85502400-85503400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr4:85502400-85503400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:85502400-85503400	Enhancers	Placenta	Placenta
9	chr4:85502600-85503400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:85503000-85503400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr4:85503000-85503400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr4:85503000-85503400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
13	chr4:85503000-85503400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:85503000-85503400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
15	chr4:85503000-85503400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
16	chr4:85503000-85503400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr4:85503000-85503400	Enhancers	Brain Anterior Caudate	brain
18	chr4:85503000-85503400	Enhancers	Colonic Mucosa	Colon
19	chr4:85503000-85503400	Active TSS	Duodenum Mucosa	Duodenum
20	chr4:85503000-85503600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
21	chr4:85503000-85503600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
22	chr4:85503000-85503600	Flanking Active TSS	Fetal Heart	heart
23	chr4:85503000-85503800	Flanking Active TSS	HMEC	breast
24	chr4:85503200-85503400	Active TSS	H1 Cell Line	embryonic stem cell
25	chr4:85503200-85503400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:85503200-85503400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr4:85503200-85503400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
28	chr4:85503200-85503400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr4:85503200-85503400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr4:85503200-85503400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
31	chr4:85503200-85503400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
32	chr4:85503200-85503400	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
33	chr4:85503200-85503400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr4:85503200-85503400	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr4:85503200-85503400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
36	chr4:85503200-85503400	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr4:85503200-85503400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr4:85503200-85503400	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr4:85503200-85503400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr4:85503200-85503400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr4:85503200-85503400	Enhancers	Adipose Nuclei	Adipose
42	chr4:85503200-85503400	Weak transcription	Brain Hippocampus Middle	brain
43	chr4:85503200-85503400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr4:85503200-85503400	Enhancers	Brain Substantia Nigra	brain
45	chr4:85503200-85503400	Weak transcription	Esophagus	oesophagus
46	chr4:85503200-85503400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr4:85503200-85503400	Flanking Active TSS	Fetal Intestine Large	intestine
48	chr4:85503200-85503400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
49	chr4:85503200-85503400	Bivalent Enhancer	Fetal Muscle Leg	muscle
50	chr4:85503200-85503400	Bivalent Enhancer	Fetal Stomach	stomach

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