Variant report

Variant	rs577624089
Chromosome Location	chr7:121944484-121944485
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 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	FOXP2	chr7:121944228-121945183	SK-N-MC	brain:	n/a	n/a
3	FOXA1	chr7:121944483-121945041	HepG2	liver:	n/a	n/a
4	FOXA1	chr7:121944458-121945009	HepG2	liver:	n/a	n/a
5	YY1	chr7:121944122-121944760	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr7:121944483-121945293	MCF-7	breast:	n/a	chr7:121944810-121944821 chr7:121944808-121944819
7	FOXA2	chr7:121944136-121945194	HepG2	liver:	n/a	n/a
8	ZNF263	chr7:121944054-121944941	HEK293-T-REx	kidney:	n/a	chr7:121944601-121944622
9	SUZ12	chr7:121943645-121944644	H1-hESC	embryonic stem cell:	n/a	n/a
10	MXI1	chr7:121943855-121944583	H1-hESC	embryonic stem cell:	n/a	n/a
11	ZNF143	chr7:121943983-121944641	H1-hESC	embryonic stem cell:	n/a	chr7:121944515-121944525
12	POLR2A	chr7:121941838-121946388	SK-N-MC	brain:	n/a	n/a
13	TBP	chr7:121944457-121944832	H1-hESC	embryonic stem cell:	n/a	n/a
14	YY1	chr7:121943956-121944690	H1-hESC	embryonic stem cell:	n/a	n/a
15	SIN3A	chr7:121943697-121947785	H1-hESC	embryonic stem cell:	n/a	chr7:121946328-121946337
16	CTBP2	chr7:121943843-121944982	H1-hESC	embryonic stem cell:	n/a	n/a
17	TCF12	chr7:121944386-121944680	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr7:121943928-121945177	H1-neurons	neurons:	n/a	n/a
19	POLR2A	chr7:121943901-121947195	H1-neurons	neurons:	n/a	n/a
20	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	chr7:121944450-121944500	ovcar-3	ovarian:	n/a
2	chr7:121944450-121944500	HepG2	liver:	n/a
3	chr7:121944450-121944500	AoSMC	blood vessel:	n/a
4	chr7:121944450-121944500	BE2_C	brain:	n/a
5	chr7:121944450-121944500	HCT-116	colon:	n/a
6	chr7:121944450-121944500	Jurkat	blood:	n/a
7	chr7:121944450-121944500	Caco-2	colon:	n/a
8	chr7:121944450-121944500	AG09319	gingival:	n/a
9	chr7:121944450-121944500	SK-N-SH_RA	brain:	n/a
10	chr7:121944450-121944500	Hepatocyte	liver:	n/a
11	chr7:121944450-121944500	GM06990	blood:	n/a
12	chr7:121944450-121944500	IMR90	lung:	fetal
13	chr7:121944450-121944500	U87	brain:	n/a
14	chr7:121944450-121944500	HMEC	breast:	n/a
15	chr7:121944450-121944500	SK-N-MC	brain:	n/a
16	chr7:121944450-121944500	RPTEC	kidney:	n/a
17	chr7:121944450-121944500	SAEC	small airway:	n/a
18	chr7:121944450-121944500	SK-N-SH	brain:	n/a
19	chr7:121944450-121944500	BJ	skin:	n/a
20	chr7:121944450-121944500	MCF10A-Er-Src	breast:	n/a
21	chr7:121944450-121944500	PrEC	prostate:	n/a
22	chr7:121944450-121944500	AG09309	skin:	n/a
23	chr7:121944450-121944500	K562	blood:	n/a
24	chr7:121944450-121944500	NHBE	bronchial:	n/a
25	chr7:121944450-121944500	MCF-7	breast:	n/a
26	chr7:121944450-121944500	H1-hESC	embryonic stem cell:	embryo
27	chr7:121944450-121944500	GM12878	blood:	n/a
28	chr7:121944450-121944500	Hela-S3	cervix:	n/a
29	chr7:121944450-121944500	NB4	blood:	n/a
30	chr7:121944450-121944500	ECC-1	luminal epithelium:	n/a
31	chr7:121944450-121944500	HEK293	kidney:	embryo
32	chr7:121944450-121944500	HPAEpiC	pulmonary alveolar:	n/a
33	chr7:121944450-121944500	HAEpiC	amniotic membrane:	n/a
34	chr7:121944450-121944500	NHDF-neo	bronchial:	n/a
35	chr7:121944450-121944500	PFSK-1	brain:	n/a
36	chr7:121944450-121944500	HNPCEpiC	eye:	n/a
37	chr7:121944450-121944500	NT2-D1	testis:	n/a
38	chr7:121944450-121944500	HCF	heart:	n/a
39	chr7:121944450-121944500	ProgFib	skin:	n/a
40	chr7:121944450-121944500	HL-60	blood:	n/a
41	chr7:121944450-121944500	NH-A	brain:	n/a
42	chr7:121944450-121944500	A549	lung:	n/a
43	chr7:121944450-121944500	AG10803	skin:	n/a
44	chr7:121944450-121944500	HEEpiC	esophagus:	n/a
45	chr7:121944450-121944500	AG04449	skin:	fetal
46	chr7:121944450-121944500	HCM	heart:	n/a
47	chr7:121944450-121944500	LNCaP	prostate:	n/a
48	chr7:121944450-121944500	SKMC	muscle:	n/a
49	chr7:121944450-121944500	HIPEpiC	eye:	n/a
50	chr7:121944450-121944500	HRPEpiC	eye:	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:

No data

Variant related genes	Relation type
FEZF1-AS1	TF binding region
FEZF1-AS1	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:76 , 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	chr7:121943200-121944600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
5	chr7:121943400-121947600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr7:121943400-121947600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
7	chr7:121943400-121947600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr7:121943400-121947800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
9	chr7:121943400-121948000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr7:121943600-121945200	Bivalent Enhancer	Placenta	Placenta
11	chr7:121943600-121945800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
12	chr7:121943800-121944600	Bivalent Enhancer	Brain Cingulate Gyrus	brain
13	chr7:121943800-121944600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
14	chr7:121943800-121944600	Bivalent Enhancer	Fetal Heart	heart
15	chr7:121943800-121944600	Bivalent Enhancer	Fetal Muscle Leg	muscle
16	chr7:121943800-121944800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:121943800-121944800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
18	chr7:121943800-121944800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:121943800-121945800	Bivalent Enhancer	Fetal Stomach	stomach
20	chr7:121943800-121946400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
21	chr7:121943800-121947400	Bivalent Enhancer	Fetal Brain Male	brain
22	chr7:121944000-121944600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
23	chr7:121944000-121944800	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr7:121944000-121944800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr7:121944000-121944800	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
26	chr7:121944000-121944800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
27	chr7:121944000-121944800	Bivalent Enhancer	Spleen	Spleen
28	chr7:121944000-121945200	Bivalent Enhancer	Left Ventricle	heart
29	chr7:121944000-121945400	Bivalent Enhancer	Stomach Mucosa	stomach
30	chr7:121944000-121945600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr7:121944000-121946000	Bivalent Enhancer	Ovary	ovary
32	chr7:121944000-121947000	Bivalent Enhancer	Lung	lung
33	chr7:121944000-121947000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
34	chr7:121944000-121947600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr7:121944000-121947800	Active TSS	H9 Cell Line	embryonic stem cell
36	chr7:121944200-121944600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr7:121944200-121944600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr7:121944200-121944600	Flanking Active TSS	Pancreas	Pancrea
39	chr7:121944200-121944600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
40	chr7:121944200-121944600	Bivalent Enhancer	NHDF-Ad	bronchial
41	chr7:121944200-121944800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
42	chr7:121944200-121944800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
43	chr7:121944200-121944800	Bivalent/Poised TSS	NH-A	brain
44	chr7:121944200-121945400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
45	chr7:121944200-121945800	Bivalent Enhancer	HUVEC	blood vessel
46	chr7:121944200-121946000	Bivalent Enhancer	Esophagus	oesophagus
47	chr7:121944200-121946200	Bivalent Enhancer	Fetal Intestine Large	intestine
48	chr7:121944200-121946400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
49	chr7:121944200-121946600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
50	chr7:121944200-121946800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived

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