Variant report

Variant	rs58938116
Chromosome Location	chr7:121946082-121946083
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 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	BACH1	chr7:121945507-121946472	H1-hESC	embryonic stem cell:	n/a	n/a
3	MXI1	chr7:121946019-121946356	H1-hESC	embryonic stem cell:	n/a	chr7:121946326-121946335 chr7:121946328-121946337
4	SIN3AK20	chr7:121946064-121947020	H1-hESC	embryonic stem cell:	n/a	n/a
5	TBP	chr7:121945798-121947603	H1-hESC	embryonic stem cell:	n/a	n/a
6	ZNF263	chr7:121945162-121946325	HEK293-T-REx	kidney:	n/a	n/a
7	SUZ12	chr7:121945474-121946761	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTBP2	chr7:121945254-121947668	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr7:121945315-121946389	H1-neurons	neurons:	n/a	n/a
10	KAP1	chr7:121945726-121946524	HEK293	kidney:	n/a	n/a
11	E2F6	chr7:121945859-121947249	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr7:121941838-121946388	SK-N-MC	brain:	n/a	n/a
13	MAX	chr7:121945716-121947277	H1-hESC	embryonic stem cell:	n/a	chr7:121946327-121946337 chr7:121946327-121946336 chr7:121946327-121946336 chr7:121946327-121946336
14	E2F6	chr7:121945785-121947353	H1-hESC	embryonic stem cell:	n/a	n/a
15	RAD21	chr7:121945691-121947615	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr7:121945778-121946226	HCT-116	colon:	n/a	n/a
17	TCF7L2	chr7:121944782-121946275	HCT-116	colon:	n/a	n/a
18	SIN3A	chr7:121943697-121947785	H1-hESC	embryonic stem cell:	n/a	chr7:121946328-121946337
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
21	MAX	chr7:121945969-121947067	H1-hESC	embryonic stem cell:	n/a	chr7:121946327-121946337 chr7:121946327-121946336 chr7:121946327-121946336 chr7:121946327-121946336
22	NRF1	chr7:121946063-121946129	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:121946036-121946086	A549	lung:	n/a
2	chr7:121946036-121946086	NHDF-neo	bronchial:	n/a
3	chr7:121946036-121946086	HCM	heart:	n/a
4	chr7:121946036-121946086	U87	brain:	n/a
5	chr7:121946036-121946086	PrEC	prostate:	n/a
6	chr7:121946036-121946086	Hela-S3	cervix:	n/a
7	chr7:121946036-121946086	ProgFib	skin:	n/a
8	chr7:121946036-121946086	AG09309	skin:	n/a
9	chr7:121946036-121946086	GM12878	blood:	n/a
10	chr7:121946036-121946086	HPAEpiC	pulmonary alveolar:	n/a
11	chr7:121946036-121946086	PANC-1	pancreas:	n/a
12	chr7:121946036-121946086	GM12891	blood:	n/a
13	chr7:121946036-121946086	GM19239	blood:	n/a
14	chr7:121946036-121946086	HRE	kidney:	n/a
15	chr7:121946036-121946086	NB4	blood:	n/a
16	chr7:121946036-121946086	SK-N-SH	brain:	n/a
17	chr7:121946036-121946086	HCT-116	colon:	n/a
18	chr7:121946036-121946086	HRCEpiC	kidney:	n/a
19	chr7:121946036-121946086	T-47D	breast:	n/a
20	chr7:121946036-121946086	ECC-1	luminal epithelium:	n/a
21	chr7:121946036-121946086	HCPEpiC	choroid plexus:	n/a
22	chr7:121946036-121946086	HNPCEpiC	eye:	n/a
23	chr7:121946036-121946086	AG04449	skin:	fetal
24	chr7:121946036-121946086	HIPEpiC	eye:	n/a
25	chr7:121946036-121946086	Jurkat	blood:	n/a
26	chr7:121946036-121946086	HAEpiC	amniotic membrane:	n/a
27	chr7:121946036-121946086	BJ	skin:	n/a
28	chr7:121946036-121946086	RPTEC	kidney:	n/a
29	chr7:121946036-121946086	AG09319	gingival:	n/a
30	chr7:121946036-121946086	ovcar-3	ovarian:	n/a
31	chr7:121946036-121946086	CMK	blood:	n/a
32	chr7:121946036-121946086	HUVEC	blood vessel:	n/a
33	chr7:121946036-121946086	GM12892	blood:	n/a
34	chr7:121946036-121946086	HepG2	liver:	n/a
35	chr7:121946036-121946086	SK-N-SH_RA	brain:	n/a
36	chr7:121946036-121946086	MCF10A-Er-Src	breast:	n/a
37	chr7:121946036-121946086	PFSK-1	brain:	n/a
38	chr7:121946036-121946086	LNCaP	prostate:	n/a
39	chr7:121946036-121946086	AoSMC	blood vessel:	n/a
40	chr7:121946036-121946086	MCF-7	breast:	n/a
41	chr7:121946036-121946086	IMR90	lung:	fetal
42	chr7:121946036-121946086	BE2_C	brain:	n/a
43	chr7:121946036-121946086	GM06990	blood:	n/a
44	chr7:121946036-121946086	HEEpiC	esophagus:	n/a
45	chr7:121946036-121946086	SK-N-MC	brain:	n/a
46	chr7:121946036-121946086	NHBE	bronchial:	n/a
47	chr7:121946036-121946086	HCF	heart:	n/a
48	chr7:121946036-121946086	H1-hESC	embryonic stem cell:	embryo
49	chr7:121946036-121946086	AG04450	lung:	fetal
50	chr7:121946036-121946086	AG10803	skin:	n/a

No data

Variant related genes	Relation type
FEZF1	TF binding region
FEZF1-AS1	TF binding region
FEZF1-AS1	CpG island
FEZF1	CpG island

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11762051	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11767283	0.91[AMR][1000 genomes]
rs1909945	0.84[ASN][1000 genomes]
rs5007345	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]

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:82 , 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	chr7:121943400-121947600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr7:121943400-121947600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
5	chr7:121943400-121947600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
6	chr7:121943400-121947800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr7:121943400-121948000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr7:121943800-121946400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
9	chr7:121943800-121947400	Bivalent Enhancer	Fetal Brain Male	brain
10	chr7:121944000-121947000	Bivalent Enhancer	Lung	lung
11	chr7:121944000-121947000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
12	chr7:121944000-121947600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr7:121944000-121947800	Active TSS	H9 Cell Line	embryonic stem cell
14	chr7:121944200-121946200	Bivalent Enhancer	Fetal Intestine Large	intestine
15	chr7:121944200-121946400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
16	chr7:121944200-121946600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
17	chr7:121944200-121946800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:121944200-121947400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
19	chr7:121944400-121946200	Flanking Active TSS	Right Ventricle	heart
20	chr7:121944400-121946800	Bivalent Enhancer	Fetal Lung	lung
21	chr7:121944600-121946200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:121944600-121946400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
23	chr7:121944800-121947600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr7:121945000-121946400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
25	chr7:121945200-121946200	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
26	chr7:121945200-121946400	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
27	chr7:121945200-121946400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
28	chr7:121945200-121946600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr7:121945200-121947800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
30	chr7:121945400-121946200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr7:121945400-121946400	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
32	chr7:121945400-121946400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
33	chr7:121945400-121946400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
34	chr7:121945400-121946400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
35	chr7:121945400-121946600	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:121945400-121946600	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
37	chr7:121945400-121946800	Enhancers	Gastric	stomach
38	chr7:121945400-121947000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr7:121945400-121947200	Bivalent Enhancer	Spleen	Spleen
40	chr7:121945400-121947400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr7:121945600-121946200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr7:121945600-121946200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr7:121945600-121946200	Flanking Bivalent TSS/Enh	Left Ventricle	heart
44	chr7:121945600-121946400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr7:121945600-121946400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr7:121945600-121946400	Bivalent Enhancer	Brain Angular Gyrus	brain
47	chr7:121945600-121946400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
48	chr7:121945600-121946600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr7:121945600-121947400	Bivalent Enhancer	Fetal Intestine Small	intestine
50	chr7:121945800-121946200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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