Variant report

Variant	rs73404545
Chromosome Location	chr7:96654238-96654239
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:60)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:60 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr7:96653741-96654549	ECC-1	luminal epithelium:	n/a	n/a
2	BRCA1	chr7:96654105-96654296	H1-hESC	embryonic stem cell:	n/a	n/a
3	YY1	chr7:96653849-96654406	ECC-1	luminal epithelium:	n/a	n/a
4	MAX	chr7:96653637-96654598	ECC-1	luminal epithelium:	n/a	n/a
5	EP300	chr7:96653799-96654639	ECC-1	luminal epithelium:	n/a	chr7:96654546-96654562
6	ZBTB7A	chr7:96653707-96654613	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr7:96629453-96654775	H1-neurons	neurons:	n/a	n/a
8	NFIC	chr7:96653889-96654516	ECC-1	luminal epithelium:	n/a	n/a
9	MAX	chr7:96653845-96654505	MCF-7	breast:	n/a	n/a
10	CTBP2	chr7:96652954-96654703	H1-hESC	embryonic stem cell:	n/a	n/a
11	REST	chr7:96649968-96654452	H1-neurons	neurons:	n/a	chr7:96653242-96653252 chr7:96652071-96652084 chr7:96650634-96650647
12	ZBTB7A	chr7:96654057-96654607	ECC-1	luminal epithelium:	n/a	n/a
13	GATA2	chr7:96652918-96654350	SH-SY5Y	brain:	n/a	chr7:96653275-96653284
14	YY1	chr7:96653856-96654392	ECC-1	luminal epithelium:	n/a	n/a
15	TAF1	chr7:96653384-96654602	H1-neurons	neurons:	n/a	n/a
16	HDAC2	chr7:96653804-96654521	MCF-7	breast:	n/a	n/a
17	TCF12	chr7:96653862-96654616	ECC-1	luminal epithelium:	n/a	n/a
18	NANOG	chr7:96654073-96654409	H1-hESC	embryonic stem cell:	n/a	chr7:96654269-96654283
19	BACH1	chr7:96654160-96654648	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr7:96654047-96654507	ECC-1	luminal epithelium:	n/a	chr7:96654281-96654294
21	POLR2A	chr7:96653806-96654319	ECC-1	luminal epithelium:	n/a	n/a
22	ZNF143	chr7:96653950-96654472	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr7:96653848-96654288	MCF-7	breast:	n/a	n/a
24	TAF1	chr7:96652529-96654328	H1-neurons	neurons:	n/a	n/a
25	MAX	chr7:96654166-96654541	H1-hESC	embryonic stem cell:	n/a	n/a
26	SIN3A	chr7:96652776-96654497	H1-hESC	embryonic stem cell:	n/a	chr7:96653243-96653252
27	KAP1	chr7:96653190-96654339	HEK293	kidney:	n/a	n/a
28	CEBPB	chr7:96654022-96654366	H1-hESC	embryonic stem cell:	n/a	chr7:96654281-96654294
29	SUZ12	chr7:96650021-96654621	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr7:96649850-96654722	H1-neurons	neurons:	n/a	n/a
31	TCF12	chr7:96654047-96654404	H1-hESC	embryonic stem cell:	n/a	n/a
32	MYC	chr7:96654183-96654344	H1-hESC	embryonic stem cell:	n/a	n/a
33	ZNF263	chr7:96652687-96654427	HEK293-T-REx	kidney:	n/a	chr7:96654045-96654066
34	TCF7L2	chr7:96654104-96654385	MCF-7	breast:	n/a	n/a
35	POLR2A	chr7:96653911-96654264	U87	brain:	n/a	n/a
36	MAX	chr7:96653774-96654591	ECC-1	luminal epithelium:	n/a	n/a
37	RAD21	chr7:96653916-96654318	SK-N-SH_RA	brain:	n/a	n/a
38	TCF12	chr7:96653903-96654322	H1-hESC	embryonic stem cell:	n/a	n/a
39	SP1	chr7:96654043-96654597	H1-hESC	embryonic stem cell:	n/a	chr7:96654295-96654305 chr7:96654545-96654554 chr7:96654544-96654554 chr7:96654544-96654553 chr7:96654294-96654306 chr7:96654543-96654555 chr7:96654544-96654553 chr7:96654544-96654554 chr7:96654295-96654304 chr7:96654294-96654306 chr7:96654543-96654555
40	TEAD4	chr7:96653823-96654529	ECC-1	luminal epithelium:	n/a	n/a
41	TAF1	chr7:96654027-96654367	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr7:96653814-96654355	ECC-1	luminal epithelium:	n/a	n/a
43	MYC	chr7:96654220-96654263	MCF-7	breast:	n/a	n/a
44	SP1	chr7:96653855-96654520	H1-hESC	embryonic stem cell:	n/a	chr7:96654295-96654305 chr7:96654294-96654306 chr7:96654295-96654304 chr7:96654294-96654306
45	POLR2A	chr7:96653890-96654314	ProgFib	skin:	n/a	n/a
46	JUND	chr7:96653821-96654410	H1-hESC	embryonic stem cell:	n/a	n/a
47	CHD2	chr7:96654078-96654418	H1-hESC	embryonic stem cell:	n/a	n/a
48	RAD21	chr7:96654007-96654320	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr7:96653752-96654330	Gliobla	brain:	n/a	n/a
50	HA-E2F1	chr7:96653981-96654582	MCF-7	breast:	n/a	chr7:96654545-96654554

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:96654198-96654248	HCF	heart:	n/a
2	chr7:96654198-96654248	SK-N-MC	brain:	n/a
3	chr7:96654198-96654248	CMK	blood:	n/a
4	chr7:96654198-96654248	ECC-1	luminal epithelium:	n/a
5	chr7:96654198-96654248	MCF10A-Er-Src	breast:	n/a
6	chr7:96654198-96654248	T-47D	breast:	n/a
7	chr7:96654198-96654248	HCM	heart:	n/a
8	chr7:96654198-96654248	GM06990	blood:	n/a
9	chr7:96654198-96654248	RPTEC	kidney:	n/a
10	chr7:96654198-96654248	HCPEpiC	choroid plexus:	n/a
11	chr7:96654198-96654248	Caco-2	colon:	n/a
12	chr7:96654198-96654248	SKMC	muscle:	n/a
13	chr7:96654198-96654248	HUVEC	blood vessel:	n/a
14	chr7:96654198-96654248	HepG2	liver:	n/a
15	chr7:96654198-96654248	GM12891	blood:	n/a
16	chr7:96654198-96654248	U87	brain:	n/a
17	chr7:96654198-96654248	PANC-1	pancreas:	n/a
18	chr7:96654198-96654248	ovcar-3	ovarian:	n/a
19	chr7:96654198-96654248	AG09309	skin:	n/a
20	chr7:96654198-96654248	PrEC	prostate:	n/a
21	chr7:96654198-96654248	HEEpiC	esophagus:	n/a
22	chr7:96654198-96654248	Hepatocyte	liver:	n/a
23	chr7:96654198-96654248	H1-hESC	embryonic stem cell:	embryo
24	chr7:96654198-96654248	MCF-7	breast:	n/a
25	chr7:96654198-96654248	HCT-116	colon:	n/a
26	chr7:96654198-96654248	NB4	blood:	n/a
27	chr7:96654198-96654248	BE2_C	brain:	n/a
28	chr7:96654198-96654248	SK-N-SH	brain:	n/a
29	chr7:96654198-96654248	AG09319	gingival:	n/a
30	chr7:96654198-96654248	Hela-S3	cervix:	n/a
31	chr7:96654198-96654248	IMR90	lung:	fetal
32	chr7:96654198-96654248	BJ	skin:	n/a
33	chr7:96654198-96654248	K562	blood:	n/a
34	chr7:96654198-96654248	AoSMC	blood vessel:	n/a
35	chr7:96654198-96654248	AG10803	skin:	n/a
36	chr7:96654198-96654248	AG04449	skin:	fetal
37	chr7:96654198-96654248	HRE	kidney:	n/a
38	chr7:96654198-96654248	HMEC	breast:	n/a
39	chr7:96654198-96654248	HAEpiC	amniotic membrane:	n/a
40	chr7:96654198-96654248	NHDF-neo	bronchial:	n/a
41	chr7:96654198-96654248	HNPCEpiC	eye:	n/a
42	chr7:96654198-96654248	SAEC	small airway:	n/a
43	chr7:96654198-96654248	GM12892	blood:	n/a
44	chr7:96654198-96654248	GM19239	blood:	n/a
45	chr7:96654198-96654248	SK-N-SH_RA	brain:	n/a
46	chr7:96654198-96654248	GM12878	blood:	n/a
47	chr7:96654198-96654248	ProgFib	skin:	n/a
48	chr7:96654198-96654248	HRPEpiC	eye:	n/a
49	chr7:96654198-96654248	HRCEpiC	kidney:	n/a
50	chr7:96654198-96654248	HIPEpiC	eye:	n/a

No data

Variant related genes	Relation type
DLX5	TF binding region
DLX5	CpG island

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17168147	1.00[EUR][1000 genomes]
rs2204509	1.00[AMR][1000 genomes]
rs57290194	1.00[EUR][1000 genomes]
rs60114973	1.00[AMR][1000 genomes]
rs60821810	1.00[AMR][1000 genomes]
rs61402239	1.00[AMR][1000 genomes]
rs6963087	1.00[EUR][1000 genomes]
rs73404527	1.00[EUR][1000 genomes]
rs73404541	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73404547	1.00[EUR][1000 genomes]
rs73406412	1.00[AMR][1000 genomes]
rs73406431	1.00[AMR][1000 genomes]
rs73406434	1.00[AMR][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	nsv824221	chr7:96620279-96669211	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:96647000-96655200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
2	chr7:96650400-96654400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
3	chr7:96651400-96654400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr7:96651600-96654400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:96651600-96654400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
6	chr7:96651600-96654400	Bivalent/Poised TSS	Fetal Lung	lung
7	chr7:96652200-96654600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
8	chr7:96652400-96654600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:96652600-96654600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
10	chr7:96652600-96654600	Bivalent/Poised TSS	NHEK	skin
11	chr7:96652800-96654400	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
12	chr7:96653000-96654400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr7:96653000-96654400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
14	chr7:96653000-96654600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
15	chr7:96653200-96654400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
16	chr7:96653200-96654400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
17	chr7:96653200-96654400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
18	chr7:96653200-96654400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
19	chr7:96653200-96654400	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
20	chr7:96653200-96654400	Bivalent Enhancer	Liver	Liver
21	chr7:96653200-96654400	Flanking Bivalent TSS/Enh	Placenta	Placenta
22	chr7:96653200-96654400	Bivalent Enhancer	Stomach Mucosa	stomach
23	chr7:96653200-96654400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
24	chr7:96653200-96656600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
25	chr7:96653400-96654400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
26	chr7:96653400-96654400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr7:96653400-96654400	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
28	chr7:96653400-96654400	Flanking Bivalent TSS/Enh	Brain Substantia Nigra	brain
29	chr7:96653400-96654400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
30	chr7:96653400-96654600	Bivalent/Poised TSS	HSMM	muscle
31	chr7:96653400-96654800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
32	chr7:96653600-96654400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
33	chr7:96653800-96654400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
34	chr7:96653800-96654400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
35	chr7:96653800-96654600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
36	chr7:96653800-96654600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
37	chr7:96653800-96654600	Flanking Active TSS	Ovary	ovary
38	chr7:96654000-96654400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr7:96654000-96654400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr7:96654000-96654400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
41	chr7:96654000-96654600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr7:96654000-96657200	Bivalent Enhancer	Fetal Brain Male	brain
43	chr7:96654200-96654400	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr7:96654200-96654400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr7:96654200-96654400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr7:96654200-96654400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr7:96654200-96654400	Flanking Bivalent TSS/Enh	Brain Angular Gyrus	brain
48	chr7:96654200-96654400	Bivalent Enhancer	Colon Smooth Muscle	Colon
49	chr7:96654200-96654400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
50	chr7:96654200-96654400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum

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