Variant report

Variant	rs368482425
Chromosome Location	chr7:121944993-121944994
allele	A/C
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	SUZ12	chr7:121939309-121947723	NT2-D1	testis:	n/a	n/a
2	FOXP2	chr7:121944228-121945183	SK-N-MC	brain:	n/a	n/a
3	FOXA1	chr7:121944483-121945041	HepG2	liver:	n/a	n/a
4	POLR2A	chr7:121944733-121945244	HCT-116	colon:	n/a	n/a
5	FOXA1	chr7:121944458-121945009	HepG2	liver:	n/a	n/a
6	CEBPB	chr7:121944483-121945293	MCF-7	breast:	n/a	chr7:121944810-121944821 chr7:121944808-121944819
7	CEBPB	chr7:121944548-121945033	ECC-1	luminal epithelium:	n/a	chr7:121944810-121944821 chr7:121944808-121944819
8	MAZ	chr7:121944714-121945114	HepG2	liver:	n/a	n/a
9	FOXA2	chr7:121944136-121945194	HepG2	liver:	n/a	n/a
10	FOXP2	chr7:121944570-121945005	SK-N-MC	brain:	n/a	n/a
11	CEBPB	chr7:121944769-121945211	IMR90	lung:	n/a	chr7:121944810-121944821 chr7:121944808-121944819
12	SP1	chr7:121944669-121945150	H1-hESC	embryonic stem cell:	n/a	chr7:121944897-121944908 chr7:121944899-121944908 chr7:121944909-121944920 chr7:121944939-121944950
13	ARID3A	chr7:121944597-121945164	HepG2	liver:	n/a	chr7:121945082-121945097
14	POLR2A	chr7:121941838-121946388	SK-N-MC	brain:	n/a	n/a
15	JUND	chr7:121944985-121945211	HepG2	liver:	n/a	n/a
16	TCF7L2	chr7:121944782-121946275	HCT-116	colon:	n/a	n/a
17	SIN3A	chr7:121943697-121947785	H1-hESC	embryonic stem cell:	n/a	chr7:121946328-121946337
18	HA-E2F1	chr7:121944529-121945316	MCF-7	breast:	n/a	chr7:121944934-121944948 chr7:121944932-121944942
19	CEBPB	chr7:121944633-121945251	H1-hESC	embryonic stem cell:	n/a	chr7:121944810-121944821 chr7:121944808-121944819
20	POLR2A	chr7:121943928-121945177	H1-neurons	neurons:	n/a	n/a
21	CEBPB	chr7:121944628-121945309	HepG2	liver:	n/a	chr7:121944810-121944821 chr7:121944808-121944819
22	POLR2A	chr7:121943901-121947195	H1-neurons	neurons:	n/a	n/a
23	POLR2A	chr7:121941717-121947807	SK-N-MC	brain:	n/a	n/a

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

Variant related genes	Relation type
FEZF1	TF binding region
FEZF1-AS1	TF binding region
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:75 , 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	chr7:121943600-121945200	Bivalent Enhancer	Placenta	Placenta
10	chr7:121943600-121945800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
11	chr7:121943800-121945800	Bivalent Enhancer	Fetal Stomach	stomach
12	chr7:121943800-121946400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
13	chr7:121943800-121947400	Bivalent Enhancer	Fetal Brain Male	brain
14	chr7:121944000-121945200	Bivalent Enhancer	Left Ventricle	heart
15	chr7:121944000-121945400	Bivalent Enhancer	Stomach Mucosa	stomach
16	chr7:121944000-121945600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr7:121944000-121946000	Bivalent Enhancer	Ovary	ovary
18	chr7:121944000-121947000	Bivalent Enhancer	Lung	lung
19	chr7:121944000-121947000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
20	chr7:121944000-121947600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr7:121944000-121947800	Active TSS	H9 Cell Line	embryonic stem cell
22	chr7:121944200-121945400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
23	chr7:121944200-121945800	Bivalent Enhancer	HUVEC	blood vessel
24	chr7:121944200-121946000	Bivalent Enhancer	Esophagus	oesophagus
25	chr7:121944200-121946200	Bivalent Enhancer	Fetal Intestine Large	intestine
26	chr7:121944200-121946400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
27	chr7:121944200-121946600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
28	chr7:121944200-121946800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr7:121944200-121947400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
30	chr7:121944400-121945800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr7:121944400-121945800	Bivalent/Poised TSS	Psoas Muscle	Psoas
32	chr7:121944400-121945800	Flanking Bivalent TSS/Enh	HepG2	liver
33	chr7:121944400-121946000	Bivalent/Poised TSS	HSMMtube	muscle
34	chr7:121944400-121946200	Flanking Active TSS	Right Ventricle	heart
35	chr7:121944400-121946800	Bivalent Enhancer	Fetal Lung	lung
36	chr7:121944600-121945000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr7:121944600-121945200	Bivalent Enhancer	Aorta	Aorta
38	chr7:121944600-121945200	Enhancers	Pancreas	Pancrea
39	chr7:121944600-121945200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
40	chr7:121944600-121945200	Bivalent/Poised TSS	HSMM	muscle
41	chr7:121944600-121945400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr7:121944600-121945400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr7:121944600-121945400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
44	chr7:121944600-121945800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr7:121944600-121945800	Active TSS	Right Atrium	heart
46	chr7:121944600-121946200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr7:121944600-121946400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
48	chr7:121944800-121945000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr7:121944800-121945000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr7:121944800-121945000	Bivalent Enhancer	Adipose Nuclei	Adipose

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