Variant report

Variant	rs572715647
Chromosome Location	chr7:121945207-121945208
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SUZ12	chr7:121939309-121947723	NT2-D1	testis:	n/a	n/a
2	POLR2A	chr7:121944733-121945244	HCT-116	colon:	n/a	n/a
3	ZNF263	chr7:121945162-121946325	HEK293-T-REx	kidney:	n/a	n/a
4	CEBPB	chr7:121944483-121945293	MCF-7	breast:	n/a	chr7:121944810-121944821 chr7:121944808-121944819
5	CEBPB	chr7:121944769-121945211	IMR90	lung:	n/a	chr7:121944810-121944821 chr7:121944808-121944819
6	POLR2A	chr7:121941838-121946388	SK-N-MC	brain:	n/a	n/a
7	JUND	chr7:121944985-121945211	HepG2	liver:	n/a	n/a
8	TCF7L2	chr7:121944782-121946275	HCT-116	colon:	n/a	n/a
9	SIN3A	chr7:121943697-121947785	H1-hESC	embryonic stem cell:	n/a	chr7:121946328-121946337
10	HA-E2F1	chr7:121944529-121945316	MCF-7	breast:	n/a	chr7:121944934-121944948 chr7:121944932-121944942
11	CEBPB	chr7:121944633-121945251	H1-hESC	embryonic stem cell:	n/a	chr7:121944810-121944821 chr7:121944808-121944819
12	CEBPB	chr7:121944628-121945309	HepG2	liver:	n/a	chr7:121944810-121944821 chr7:121944808-121944819
13	POLR2A	chr7:121943901-121947195	H1-neurons	neurons:	n/a	n/a
14	POLR2A	chr7:121941717-121947807	SK-N-MC	brain:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:121945191-121945241	Hepatocyte	liver:	n/a
2	chr7:121945191-121945241	NT2-D1	testis:	n/a
3	chr7:121945191-121945241	HUVEC	blood vessel:	n/a
4	chr7:121945191-121945241	HRCEpiC	kidney:	n/a
5	chr7:121945191-121945241	NB4	blood:	n/a
6	chr7:121945191-121945241	SK-N-SH	brain:	n/a
7	chr7:121945191-121945241	AG04450	lung:	fetal
8	chr7:121945191-121945241	HIPEpiC	eye:	n/a
9	chr7:121945191-121945241	AoSMC	blood vessel:	n/a
10	chr7:121945191-121945241	ProgFib	skin:	n/a
11	chr7:121945191-121945241	HEEpiC	esophagus:	n/a
12	chr7:121945191-121945241	A549	lung:	n/a
13	chr7:121945191-121945241	GM19239	blood:	n/a
14	chr7:121945191-121945241	PrEC	prostate:	n/a
15	chr7:121945191-121945241	HMEC	breast:	n/a
16	chr7:121945191-121945241	BE2_C	brain:	n/a
17	chr7:121945191-121945241	H1-hESC	embryonic stem cell:	embryo
18	chr7:121945191-121945241	ECC-1	luminal epithelium:	n/a
19	chr7:121945191-121945241	GM12892	blood:	n/a
20	chr7:121945191-121945241	HEK293	kidney:	embryo
21	chr7:121945191-121945241	BJ	skin:	n/a
22	chr7:121945191-121945241	HPAEpiC	pulmonary alveolar:	n/a
23	chr7:121945191-121945241	Caco-2	colon:	n/a
24	chr7:121945191-121945241	PANC-1	pancreas:	n/a
25	chr7:121945191-121945241	MCF-7	breast:	n/a
26	chr7:121945191-121945241	CMK	blood:	n/a
27	chr7:121945191-121945241	GM06990	blood:	n/a
28	chr7:121945191-121945241	NH-A	brain:	n/a
29	chr7:121945191-121945241	GM12878	blood:	n/a
30	chr7:121945191-121945241	U87	brain:	n/a
31	chr7:121945191-121945241	NHBE	bronchial:	n/a
32	chr7:121945191-121945241	HRPEpiC	eye:	n/a
33	chr7:121945191-121945241	LNCaP	prostate:	n/a
34	chr7:121945191-121945241	PFSK-1	brain:	n/a
35	chr7:121945191-121945241	HCPEpiC	choroid plexus:	n/a
36	chr7:121945191-121945241	SK-N-SH_RA	brain:	n/a
37	chr7:121945191-121945241	Jurkat	blood:	n/a
38	chr7:121945191-121945241	AG09309	skin:	n/a
39	chr7:121945191-121945241	ovcar-3	ovarian:	n/a
40	chr7:121945191-121945241	HRE	kidney:	n/a
41	chr7:121945191-121945241	AG09319	gingival:	n/a
42	chr7:121945191-121945241	HCF	heart:	n/a
43	chr7:121945191-121945241	HCT-116	colon:	n/a
44	chr7:121945191-121945241	GM12891	blood:	n/a
45	chr7:121945191-121945241	SK-N-MC	brain:	n/a
46	chr7:121945191-121945241	K562	blood:	n/a
47	chr7:121945191-121945241	HAEpiC	amniotic membrane:	n/a
48	chr7:121945191-121945241	NHDF-neo	bronchial:	n/a
49	chr7:121945191-121945241	SAEC	small airway:	n/a
50	chr7:121945191-121945241	SKMC	muscle:	n/a

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:121944178..121945755-chr7:121949719..121951349,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTPRZ1-2	chr7:121945004-121945241	ENSG00000230316.2

No data

Variant related genes	Relation type
FEZF1-AS1	TF binding region
FEZF1	TF binding region
FEZF1-AS1	CpG island
FEZF1	CpG island
ENSG00000128610	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	nsv5931	chr7:121944137-121988594	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121939800-121947600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
2	chr7:121940000-121951000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:121943000-121945800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:121943400-121947600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr7:121943400-121947600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr7:121943400-121947600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr7:121943400-121947800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr7:121943400-121948000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr7:121943600-121945800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
10	chr7:121943800-121945800	Bivalent Enhancer	Fetal Stomach	stomach
11	chr7:121943800-121946400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
12	chr7:121943800-121947400	Bivalent Enhancer	Fetal Brain Male	brain
13	chr7:121944000-121945400	Bivalent Enhancer	Stomach Mucosa	stomach
14	chr7:121944000-121945600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:121944000-121946000	Bivalent Enhancer	Ovary	ovary
16	chr7:121944000-121947000	Bivalent Enhancer	Lung	lung
17	chr7:121944000-121947000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
18	chr7:121944000-121947600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr7:121944000-121947800	Active TSS	H9 Cell Line	embryonic stem cell
20	chr7:121944200-121945400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
21	chr7:121944200-121945800	Bivalent Enhancer	HUVEC	blood vessel
22	chr7:121944200-121946000	Bivalent Enhancer	Esophagus	oesophagus
23	chr7:121944200-121946200	Bivalent Enhancer	Fetal Intestine Large	intestine
24	chr7:121944200-121946400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
25	chr7:121944200-121946600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
26	chr7:121944200-121946800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr7:121944200-121947400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
28	chr7:121944400-121945800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr7:121944400-121945800	Bivalent/Poised TSS	Psoas Muscle	Psoas
30	chr7:121944400-121945800	Flanking Bivalent TSS/Enh	HepG2	liver
31	chr7:121944400-121946000	Bivalent/Poised TSS	HSMMtube	muscle
32	chr7:121944400-121946200	Flanking Active TSS	Right Ventricle	heart
33	chr7:121944400-121946800	Bivalent Enhancer	Fetal Lung	lung
34	chr7:121944600-121945400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:121944600-121945400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:121944600-121945400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
37	chr7:121944600-121945800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr7:121944600-121945800	Active TSS	Right Atrium	heart
39	chr7:121944600-121946200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr7:121944600-121946400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
41	chr7:121944800-121945400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:121944800-121945400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr7:121944800-121945400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr7:121944800-121945400	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
45	chr7:121944800-121945400	Bivalent Enhancer	Brain Cingulate Gyrus	brain
46	chr7:121944800-121945400	Bivalent Enhancer	Brain Hippocampus Middle	brain
47	chr7:121944800-121945400	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
48	chr7:121944800-121945400	Bivalent/Poised TSS	NHDF-Ad	bronchial
49	chr7:121944800-121945600	Bivalent Enhancer	Fetal Heart	heart
50	chr7:121944800-121945800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast

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