Variant report

Variant	rs572828311
Chromosome Location	chr7:121944299-121944300
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 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	YY1	chr7:121944122-121944760	H1-hESC	embryonic stem cell:	n/a	n/a
4	FOXA2	chr7:121944136-121945194	HepG2	liver:	n/a	n/a
5	ZNF263	chr7:121944054-121944941	HEK293-T-REx	kidney:	n/a	chr7:121944601-121944622
6	GABPA	chr7:121943938-121944352	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr7:121944001-121944341	H1-hESC	embryonic stem cell:	n/a	n/a
8	SUZ12	chr7:121943645-121944644	H1-hESC	embryonic stem cell:	n/a	n/a
9	MXI1	chr7:121943855-121944583	H1-hESC	embryonic stem cell:	n/a	n/a
10	ZNF143	chr7:121943983-121944641	H1-hESC	embryonic stem cell:	n/a	chr7:121944515-121944525
11	POLR2A	chr7:121941838-121946388	SK-N-MC	brain:	n/a	n/a
12	YY1	chr7:121943956-121944690	H1-hESC	embryonic stem cell:	n/a	n/a
13	SIN3A	chr7:121943697-121947785	H1-hESC	embryonic stem cell:	n/a	chr7:121946328-121946337
14	CHD1	chr7:121944177-121944345	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTBP2	chr7:121943843-121944982	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr7:121943928-121945177	H1-neurons	neurons:	n/a	n/a
17	POLR2A	chr7:121943901-121947195	H1-neurons	neurons:	n/a	n/a
18	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	chr7:121944282-121944332	HCPEpiC	choroid plexus:	n/a
2	chr7:121944282-121944332	GM12892	blood:	n/a
3	chr7:121944282-121944332	SK-N-SH	brain:	n/a
4	chr7:121944282-121944332	ovcar-3	ovarian:	n/a
5	chr7:121944282-121944332	HNPCEpiC	eye:	n/a
6	chr7:121944282-121944332	SK-N-MC	brain:	n/a
7	chr7:121944282-121944332	AG09319	gingival:	n/a
8	chr7:121944282-121944332	HRPEpiC	eye:	n/a
9	chr7:121944282-121944332	HCF	heart:	n/a
10	chr7:121944282-121944332	SKMC	muscle:	n/a
11	chr7:121944282-121944332	AG10803	skin:	n/a
12	chr7:121944282-121944332	NB4	blood:	n/a
13	chr7:121944282-121944332	CMK	blood:	n/a
14	chr7:121944282-121944332	HCT-116	colon:	n/a
15	chr7:121944282-121944332	H1-hESC	embryonic stem cell:	embryo
16	chr7:121944282-121944332	AG04449	skin:	fetal
17	chr7:121944282-121944332	U87	brain:	n/a
18	chr7:121944282-121944332	GM12878	blood:	n/a
19	chr7:121944282-121944332	MCF10A-Er-Src	breast:	n/a
20	chr7:121944282-121944332	Jurkat	blood:	n/a
21	chr7:121944282-121944332	HEEpiC	esophagus:	n/a
22	chr7:121944282-121944332	LNCaP	prostate:	n/a
23	chr7:121944282-121944332	BJ	skin:	n/a
24	chr7:121944282-121944332	RPTEC	kidney:	n/a
25	chr7:121944282-121944332	BE2_C	brain:	n/a
26	chr7:121944282-121944332	HRCEpiC	kidney:	n/a
27	chr7:121944282-121944332	HUVEC	blood vessel:	n/a
28	chr7:121944282-121944332	ECC-1	luminal epithelium:	n/a
29	chr7:121944282-121944332	SK-N-SH_RA	brain:	n/a
30	chr7:121944282-121944332	HL-60	blood:	n/a
31	chr7:121944282-121944332	Hepatocyte	liver:	n/a
32	chr7:121944282-121944332	GM19239	blood:	n/a
33	chr7:121944282-121944332	T-47D	breast:	n/a
34	chr7:121944282-121944332	K562	blood:	n/a
35	chr7:121944282-121944332	HEK293	kidney:	embryo
36	chr7:121944282-121944332	GM06990	blood:	n/a
37	chr7:121944282-121944332	NHDF-neo	bronchial:	n/a
38	chr7:121944282-121944332	HepG2	liver:	n/a
39	chr7:121944282-121944332	SAEC	small airway:	n/a
40	chr7:121944282-121944332	Caco-2	colon:	n/a
41	chr7:121944282-121944332	GM12891	blood:	n/a
42	chr7:121944282-121944332	PFSK-1	brain:	n/a
43	chr7:121944282-121944332	Hela-S3	cervix:	n/a
44	chr7:121944282-121944332	HAEpiC	amniotic membrane:	n/a
45	chr7:121944282-121944332	AoSMC	blood vessel:	n/a
46	chr7:121944282-121944332	HIPEpiC	eye:	n/a
47	chr7:121944282-121944332	HRE	kidney:	n/a
48	chr7:121944282-121944332	AG04450	lung:	fetal
49	chr7:121944282-121944332	NT2-D1	testis:	n/a
50	chr7:121944282-121944332	PrEC	prostate:	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:72 , 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	chr7:121941200-121944400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:121943000-121944400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
5	chr7:121943000-121945800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:121943200-121944600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
7	chr7:121943400-121947600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr7:121943400-121947600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chr7:121943400-121947600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr7:121943400-121947800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr7:121943400-121948000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
12	chr7:121943600-121945200	Bivalent Enhancer	Placenta	Placenta
13	chr7:121943600-121945800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
14	chr7:121943800-121944400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:121943800-121944400	Bivalent Enhancer	Liver	Liver
16	chr7:121943800-121944400	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
17	chr7:121943800-121944400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
18	chr7:121943800-121944400	Enhancers	Right Atrium	heart
19	chr7:121943800-121944600	Bivalent Enhancer	Brain Cingulate Gyrus	brain
20	chr7:121943800-121944600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
21	chr7:121943800-121944600	Bivalent Enhancer	Fetal Heart	heart
22	chr7:121943800-121944600	Bivalent Enhancer	Fetal Muscle Leg	muscle
23	chr7:121943800-121944800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr7:121943800-121944800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
25	chr7:121943800-121944800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr7:121943800-121945800	Bivalent Enhancer	Fetal Stomach	stomach
27	chr7:121943800-121946400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
28	chr7:121943800-121947400	Bivalent Enhancer	Fetal Brain Male	brain
29	chr7:121944000-121944400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:121944000-121944400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
31	chr7:121944000-121944400	Bivalent Enhancer	Gastric	stomach
32	chr7:121944000-121944400	Bivalent Enhancer	Psoas Muscle	Psoas
33	chr7:121944000-121944400	Flanking Bivalent TSS/Enh	Right Ventricle	heart
34	chr7:121944000-121944600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
35	chr7:121944000-121944800	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr7:121944000-121944800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:121944000-121944800	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
38	chr7:121944000-121944800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
39	chr7:121944000-121944800	Bivalent Enhancer	Spleen	Spleen
40	chr7:121944000-121945200	Bivalent Enhancer	Left Ventricle	heart
41	chr7:121944000-121945400	Bivalent Enhancer	Stomach Mucosa	stomach
42	chr7:121944000-121945600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr7:121944000-121946000	Bivalent Enhancer	Ovary	ovary
44	chr7:121944000-121947000	Bivalent Enhancer	Lung	lung
45	chr7:121944000-121947000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
46	chr7:121944000-121947600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr7:121944000-121947800	Active TSS	H9 Cell Line	embryonic stem cell
48	chr7:121944200-121944400	Flanking Bivalent TSS/Enh	ES-WA7 Cell Line	embryonic stem cell
49	chr7:121944200-121944400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:121944200-121944400	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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