Variant report

Variant	rs573308631
Chromosome Location	chr4:85504397-85504398
allele	G/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	MAX	chr4:85503574-85504583	HepG2	liver:	n/a	chr4:85503952-85503962
3	MAX	chr4:85503288-85505307	ECC-1	luminal epithelium:	n/a	chr4:85503952-85503962
4	MAX	chr4:85503415-85505025	HepG2	liver:	n/a	chr4:85503952-85503962
5	POLR2A	chr4:85503600-85504696	H1-neurons	neurons:	n/a	n/a
6	TCF12	chr4:85503324-85504408	ECC-1	luminal epithelium:	n/a	n/a
7	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
8	MAX	chr4:85503516-85504472	H1-hESC	embryonic stem cell:	n/a	chr4:85503952-85503962
9	TCF12	chr4:85503266-85504434	MCF-7	breast:	n/a	n/a
10	TBP	chr4:85503430-85504405	H1-hESC	embryonic stem cell:	n/a	n/a
11	ZEB1	chr4:85504103-85504425	GM12878	blood:	n/a	chr4:85504249-85504261 chr4:85504249-85504258
12	TCF7L2	chr4:85504297-85505020	Hela-S3	cervix:	n/a	n/a
13	TCF7L2	chr4:85503421-85505179	HCT-116	colon:	n/a	n/a
14	CHD2	chr4:85503408-85504825	H1-hESC	embryonic stem cell:	n/a	chr4:85504204-85504214 chr4:85503897-85503907 chr4:85504287-85504297
15	POLR2A	chr4:85503543-85505328	H1-neurons	neurons:	n/a	n/a
16	REST	chr4:85503380-85505244	H1-neurons	neurons:	n/a	chr4:85503763-85503770
17	MAX	chr4:85503242-85505335	HCT-116	colon:	n/a	chr4:85503952-85503962
18	CHD1	chr4:85504276-85504410	H1-hESC	embryonic stem cell:	n/a	chr4:85504287-85504297
19	POLR2A	chr4:85503419-85504910	ECC-1	luminal epithelium:	n/a	n/a
20	POLR2A	chr4:85503268-85505172	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr4:85503620-85504768	MCF10A-Er-Src	breast:	n/a	n/a
22	MAX	chr4:85503328-85505074	ECC-1	luminal epithelium:	n/a	chr4:85503952-85503962
23	MAX	chr4:85503691-85504462	NB4	blood:	n/a	chr4:85503952-85503962
24	TAF1	chr4:85503463-85504949	ECC-1	luminal epithelium:	n/a	n/a
25	POLR2A	chr4:85504135-85504461	H1-hESC	embryonic stem cell:	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	E2F6	chr4:85503630-85504834	K562	blood:	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
29	ELF1	chr4:85503401-85504413	MCF-7	breast:	n/a	chr4:85503949-85503961 chr4:85504091-85504103 chr4:85503872-85503881 chr4:85503868-85503880
30	POLR2A	chr4:85503368-85505069	MCF-7	breast:	n/a	n/a
31	POLR2A	chr4:85503407-85505150	MCF-7	breast:	n/a	n/a
32	UBTF	chr4:85503716-85504848	K562	blood:	n/a	n/a
33	UBTF	chr4:85504202-85504811	K562	blood:	n/a	n/a
34	MAX	chr4:85503317-85504499	MCF-7	breast:	n/a	chr4:85503952-85503962
35	MAZ	chr4:85503600-85505160	K562	blood:	n/a	chr4:85503952-85503962
36	TAF1	chr4:85503320-85505202	H1-hESC	embryonic stem cell:	n/a	n/a
37	CCNT2	chr4:85503609-85504778	K562	blood:	n/a	chr4:85504206-85504215 chr4:85503957-85503966 chr4:85504034-85504043
38	MAX	chr4:85504228-85504987	Hela-S3	cervix:	n/a	n/a
39	MAZ	chr4:85503593-85504525	HepG2	liver:	n/a	chr4:85503952-85503962
40	POLR2A	chr4:85503419-85504452	HCT-116	colon:	n/a	n/a
41	HMGN3	chr4:85503709-85504872	K562	blood:	n/a	n/a
42	MXI1	chr4:85503556-85504432	H1-hESC	embryonic stem cell:	n/a	n/a
43	ZEB1	chr4:85503441-85505143	HepG2	liver:	n/a	chr4:85504765-85504772 chr4:85504249-85504261 chr4:85504249-85504258
44	CBX3	chr4:85503255-85504472	HCT-116	colon:	n/a	n/a
45	POLR2A	chr4:85503343-85505172	MCF-7	breast:	n/a	n/a
46	MAX	chr4:85503204-85505146	HCT-116	colon:	n/a	chr4:85503952-85503962
47	MYC	chr4:85503589-85504427	MCF10A-Er-Src	breast:	n/a	chr4:85503952-85503962
48	ZNF263	chr4:85504306-85505271	HEK293-T-REx	kidney:	n/a	chr4:85504793-85504802
49	SMARCB1	chr4:85503748-85505136	Hela-S3	cervix:	n/a	n/a
50	TCF12	chr4:85503218-85505015	ECC-1	luminal epithelium:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:85504391-85504441	HL-60	blood:	n/a
2	chr4:85504391-85504441	HCM	heart:	n/a
3	chr4:85504391-85504441	GM12878	blood:	n/a
4	chr4:85504391-85504441	SKMC	muscle:	n/a
5	chr4:85504391-85504441	LNCaP	prostate:	n/a
6	chr4:85504391-85504441	PrEC	prostate:	n/a
7	chr4:85504391-85504441	SK-N-SH	brain:	n/a
8	chr4:85504391-85504441	AoSMC	blood vessel:	n/a
9	chr4:85504391-85504441	Hepatocyte	liver:	n/a
10	chr4:85504391-85504441	A549	lung:	n/a
11	chr4:85504391-85504441	ovcar-3	ovarian:	n/a
12	chr4:85504391-85504441	HCPEpiC	choroid plexus:	n/a
13	chr4:85504391-85504441	HUVEC	blood vessel:	n/a
14	chr4:85504391-85504441	AG09309	skin:	n/a
15	chr4:85504391-85504441	NHDF-neo	bronchial:	n/a
16	chr4:85504391-85504441	HIPEpiC	eye:	n/a
17	chr4:85504391-85504441	PFSK-1	brain:	n/a
18	chr4:85504391-85504441	Caco-2	colon:	n/a
19	chr4:85504391-85504441	CMK	blood:	n/a
20	chr4:85504391-85504441	HEEpiC	esophagus:	n/a
21	chr4:85504391-85504441	HCT-116	colon:	n/a
22	chr4:85504391-85504441	HNPCEpiC	eye:	n/a
23	chr4:85504391-85504441	SK-N-MC	brain:	n/a
24	chr4:85504391-85504441	MCF-7	breast:	n/a
25	chr4:85504391-85504441	HAEpiC	amniotic membrane:	n/a
26	chr4:85504391-85504441	NHBE	bronchial:	n/a
27	chr4:85504391-85504441	HepG2	liver:	n/a
28	chr4:85504391-85504441	NB4	blood:	n/a
29	chr4:85504391-85504441	HRPEpiC	eye:	n/a
30	chr4:85504391-85504441	HPAEpiC	pulmonary alveolar:	n/a
31	chr4:85504391-85504441	ProgFib	skin:	n/a
32	chr4:85504391-85504441	BE2_C	brain:	n/a
33	chr4:85504391-85504441	BJ	skin:	n/a
34	chr4:85504391-85504441	Hela-S3	cervix:	n/a
35	chr4:85504391-85504441	PANC-1	pancreas:	n/a
36	chr4:85504391-85504441	Jurkat	blood:	n/a
37	chr4:85504391-85504441	K562	blood:	n/a
38	chr4:85504391-85504441	MCF10A-Er-Src	breast:	n/a
39	chr4:85504391-85504441	H1-hESC	embryonic stem cell:	embryo
40	chr4:85504391-85504441	AG09319	gingival:	n/a
41	chr4:85504391-85504441	U87	brain:	n/a
42	chr4:85504391-85504441	GM06990	blood:	n/a
43	chr4:85504391-85504441	HCF	heart:	n/a
44	chr4:85504391-85504441	SK-N-SH_RA	brain:	n/a
45	chr4:85504391-85504441	HRE	kidney:	n/a
46	chr4:85504391-85504441	GM12892	blood:	n/a
47	chr4:85504391-85504441	HRCEpiC	kidney:	n/a
48	chr4:85504391-85504441	SAEC	small airway:	n/a
49	chr4:85504391-85504441	AG10803	skin:	n/a
50	chr4:85504391-85504441	AG04450	lung:	fetal

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
CDS1	CpG island
ENSG00000145337	Chromatin interaction
ENSG00000138641	Chromatin interaction
ENSG00000180769	Chromatin interaction
ENSG00000163625	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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:85503200-85505000	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr4:85503200-85505000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:85503200-85505400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr4:85503200-85505600	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr4:85503400-85504600	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr4:85503400-85504600	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr4:85503400-85504600	Bivalent/Poised TSS	NHLF	lung
8	chr4:85503400-85504800	Active TSS	Fetal Brain Female	brain
9	chr4:85503400-85505000	Bivalent/Poised TSS	Osteobl	bone
10	chr4:85503400-85505200	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr4:85503400-85505200	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr4:85503400-85505400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr4:85503400-85505400	Active TSS	Placenta Amnion	Placenta Amnion
14	chr4:85503400-85505600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr4:85503400-85505800	Active TSS	Brain Angular Gyrus	brain
16	chr4:85503400-85505800	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr4:85503600-85504400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:85503600-85504400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:85503600-85504400	Bivalent/Poised TSS	Thymus	Thymus
20	chr4:85503600-85504400	Active TSS	A549	lung
21	chr4:85503600-85504600	Active TSS	Primary T cells from cord blood	blood
22	chr4:85503600-85504600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
23	chr4:85503600-85504600	Bivalent/Poised TSS	Psoas Muscle	Psoas
24	chr4:85503600-85504800	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr4:85503600-85504800	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr4:85503600-85504800	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr4:85503600-85504800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr4:85503600-85504800	Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr4:85503600-85504800	Active TSS	Left Ventricle	heart
30	chr4:85503600-85504800	Active TSS	Hela-S3	cervix
31	chr4:85503600-85504800	Bivalent/Poised TSS	HSMM	muscle
32	chr4:85503600-85505000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr4:85503600-85505000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
34	chr4:85503600-85505000	Weak transcription	Fetal Heart	heart
35	chr4:85503600-85505000	Active TSS	Small Intestine	intestine
36	chr4:85503600-85505200	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr4:85503600-85505200	Active TSS	Aorta	Aorta
38	chr4:85503600-85505200	Active TSS	Ovary	ovary
39	chr4:85503600-85505400	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr4:85503600-85505400	Active TSS	Brain Substantia Nigra	brain
41	chr4:85503600-85505600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr4:85503600-85505600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr4:85503600-85505600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr4:85503600-85505600	Active TSS	Brain Cingulate Gyrus	brain
45	chr4:85503600-85505600	Active TSS	Brain Hippocampus Middle	brain
46	chr4:85503600-85505600	Bivalent/Poised TSS	Fetal Kidney	kidney
47	chr4:85503600-85505800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr4:85503600-85505800	Active TSS	Esophagus	oesophagus
49	chr4:85503600-85505800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
50	chr4:85503600-85506000	Active TSS	H9 Cell Line	embryonic stem cell

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