Variant report

Variant	rs533316065
Chromosome Location	chr4:187476778-187476779
allele	A/G
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	RAD21	chr4:187476703-187476913	A549	lung:	n/a	n/a
2	MAX	chr4:187476136-187477089	ECC-1	luminal epithelium:	n/a	chr4:187476653-187476662 chr4:187476608-187476617 chr4:187476677-187476688
3	CTCF	chr4:187476561-187476911	ECC-1	luminal epithelium:	n/a	chr4:187476681-187476699 chr4:187476682-187476698
4	CTCF	chr4:187476608-187476858	A549	lung:	n/a	chr4:187476681-187476699 chr4:187476682-187476698
5	CTCF	chr4:187476688-187476831	HepG2	liver:	n/a	n/a
6	JUND	chr4:187476669-187476903	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr4:187476680-187476830	SAEC	small airway:	n/a	chr4:187476681-187476699 chr4:187476682-187476698
8	EGR1	chr4:187476432-187476909	ECC-1	luminal epithelium:	n/a	chr4:187476652-187476663 chr4:187476650-187476664 chr4:187476652-187476661 chr4:187476606-187476619 chr4:187476652-187476663 chr4:187476652-187476662 chr4:187476651-187476664 chr4:187476601-187476623 chr4:187476604-187476614 chr4:187476651-187476664 chr4:187476651-187476664 chr4:187476652-187476662
9	CTCF	chr4:187476443-187477110	A549	lung:	n/a	chr4:187476681-187476699 chr4:187476682-187476698
10	CTCF	chr4:187476556-187476896	A549	lung:	n/a	chr4:187476681-187476699 chr4:187476682-187476698
11	CTCF	chr4:187476700-187476850	HCT-116	colon:	n/a	n/a
12	GATA2	chr4:187476702-187477089	SH-SY5Y	brain:	n/a	n/a
13	CTCF	chr4:187476636-187476908	A549	lung:	n/a	chr4:187476681-187476699 chr4:187476682-187476698
14	MAX	chr4:187476206-187477091	H1-hESC	embryonic stem cell:	n/a	chr4:187476653-187476662 chr4:187476608-187476617 chr4:187476677-187476688
15	MYC	chr4:187476324-187477124	H1-hESC	embryonic stem cell:	n/a	chr4:187476653-187476662 chr4:187476608-187476617 chr4:187476677-187476688
16	MAX	chr4:187476113-187477137	A549	lung:	n/a	chr4:187476653-187476662 chr4:187476608-187476617 chr4:187476677-187476688
17	CTCF	chr4:187476722-187476823	ProgFib	skin:	n/a	n/a
18	RAD21	chr4:187476591-187476882	HepG2	liver:	n/a	chr4:187476688-187476697 chr4:187476679-187476698
19	CTCF	chr4:187476720-187476870	HA-sp	spinal cord:	n/a	n/a
20	MXI1	chr4:187476741-187476942	H1-hESC	embryonic stem cell:	n/a	n/a
21	MAX	chr4:187476133-187477114	ECC-1	luminal epithelium:	n/a	chr4:187476653-187476662 chr4:187476608-187476617 chr4:187476677-187476688
22	CTCF	chr4:187476702-187476859	MCF-7	breast:	n/a	n/a
23	CTCF	chr4:187476752-187476798	LNCaP	prostate:	n/a	n/a
24	TCF12	chr4:187476642-187476861	H1-hESC	embryonic stem cell:	n/a	chr4:187476686-187476693
25	MAX	chr4:187476171-187477022	H1-hESC	embryonic stem cell:	n/a	chr4:187476653-187476662 chr4:187476608-187476617 chr4:187476677-187476688
26	CTCF	chr4:187476640-187476790	Caco-2	colon:	n/a	chr4:187476681-187476699 chr4:187476682-187476698
27	CTBP2	chr4:187475979-187476923	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr4:187476660-187476858	NHEK	skin:	n/a	chr4:187476681-187476699 chr4:187476682-187476698
29	CTCF	chr4:187476680-187476830	HEEpiC	esophagus:	n/a	chr4:187476681-187476699 chr4:187476682-187476698
30	RAD21	chr4:187476548-187476907	HepG2	liver:	n/a	chr4:187476688-187476697 chr4:187476679-187476698
31	GABPA	chr4:187476233-187476977	H1-hESC	embryonic stem cell:	n/a	chr4:187476603-187476612 chr4:187476719-187476728 chr4:187476640-187476649
32	CTCF	chr4:187476680-187476830	HBMEC	blood vessel:	n/a	chr4:187476681-187476699 chr4:187476682-187476698
33	CTCF	chr4:187476702-187476824	IMR90	lung:	n/a	n/a
34	CTCF	chr4:187476699-187476857	Gliobla	brain:	n/a	n/a
35	HDAC2	chr4:187476347-187476999	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr4:187476720-187476870	SK-N-SH_RA	brain:	n/a	n/a
37	CTCF	chr4:187476640-187476790	RPTEC	kidney:	n/a	chr4:187476681-187476699 chr4:187476682-187476698
38	CTCF	chr4:187476654-187476851	A549	lung:	n/a	chr4:187476681-187476699 chr4:187476682-187476698
39	CTCF	chr4:187476720-187476870	AG04449	skin:	n/a	n/a
40	CTCF	chr4:187476720-187476870	HMEC	breast:	n/a	n/a
41	CTCF	chr4:187476720-187476870	HCT-116	colon:	n/a	n/a
42	RAD21	chr4:187476600-187476861	SK-N-SH_RA	brain:	n/a	chr4:187476688-187476697 chr4:187476679-187476698
43	EGR1	chr4:187476506-187476904	ECC-1	luminal epithelium:	n/a	chr4:187476652-187476663 chr4:187476650-187476664 chr4:187476652-187476661 chr4:187476606-187476619 chr4:187476652-187476663 chr4:187476652-187476662 chr4:187476651-187476664 chr4:187476601-187476623 chr4:187476604-187476614 chr4:187476651-187476664 chr4:187476651-187476664 chr4:187476652-187476662
44	CTCF	chr4:187476511-187476972	H1-hESC	embryonic stem cell:	n/a	chr4:187476681-187476699 chr4:187476682-187476698
45	CTCF	chr4:187476700-187476850	HRE	kidney:	n/a	n/a
46	TBP	chr4:187475720-187476901	H1-hESC	embryonic stem cell:	n/a	n/a
47	MAX	chr4:187476370-187476973	A549	lung:	n/a	chr4:187476653-187476662 chr4:187476608-187476617 chr4:187476677-187476688
48	RAD21	chr4:187476206-187477006	ECC-1	luminal epithelium:	n/a	chr4:187476688-187476697 chr4:187476679-187476698
49	CTCF	chr4:187476660-187476810	AG09319	gingival:	n/a	chr4:187476681-187476699 chr4:187476682-187476698
50	CREB1	chr4:187476620-187476912	A549	lung:	n/a	n/a

Variant related genes	Relation type
MTNR1A	TF binding region
ENSG00000272297	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530178	chr4:186659940-187478310	Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1023052	chr4:187244679-187534428	ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1016739	chr4:187249894-187534428	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv461866	chr4:187262489-187529904	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv596417	chr4:187262489-187529904	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1022113	chr4:187268460-187534065	Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1024953	chr4:187332658-187525542	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv537435	chr4:187332658-187525542	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1016261	chr4:187332658-187564927	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv537436	chr4:187332658-187564927	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv1025088	chr4:187407683-187674585	Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv525719	chr4:187411297-187521037	Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv1025244	chr4:187419770-188284813	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
14	nsv1034212	chr4:187437895-188030805	Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
15	nsv537438	chr4:187437895-188030805	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
16	nsv1015619	chr4:187442453-187595058	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
17	nsv1023800	chr4:187444255-187593799	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
18	nsv532745	chr4:187471692-188205443	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
19	esv3373676	chr4:187475483-187478331	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
20	nsv1022262	chr4:187475862-187848284	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187475000-187476800	Active TSS	Rectal Mucosa Donor 31	rectum
2	chr4:187475000-187476800	Active TSS	Rectal Smooth Muscle	rectum
3	chr4:187475000-187477000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
4	chr4:187475200-187477200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr4:187475400-187477000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:187475600-187476800	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
7	chr4:187475600-187477000	Active TSS	H9 Cell Line	embryonic stem cell
8	chr4:187475600-187477000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr4:187475800-187476800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:187475800-187476800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr4:187475800-187476800	Flanking Bivalent TSS/Enh	Right Ventricle	heart
12	chr4:187475800-187477000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
13	chr4:187475800-187477000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
14	chr4:187475800-187477000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr4:187475800-187477000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr4:187475800-187477000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
17	chr4:187475800-187477000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr4:187475800-187477000	Active TSS	Brain Anterior Caudate	brain
19	chr4:187475800-187477000	Enhancers	Spleen	Spleen
20	chr4:187475800-187477000	Active TSS	A549	lung
21	chr4:187475800-187477200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
22	chr4:187476000-187476800	Bivalent/Poised TSS	Psoas Muscle	Psoas
23	chr4:187476000-187477000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr4:187476000-187477000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr4:187476000-187477000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
26	chr4:187476000-187477000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
27	chr4:187476000-187477000	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr4:187476000-187477000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr4:187476000-187477000	Bivalent Enhancer	Placenta	Placenta
30	chr4:187476200-187476800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr4:187476200-187476800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr4:187476200-187476800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr4:187476200-187476800	Active TSS	Right Atrium	heart
34	chr4:187476200-187476800	Bivalent/Poised TSS	HSMM	muscle
35	chr4:187476200-187477000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr4:187476200-187477000	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr4:187476200-187477000	Flanking Active TSS	Colonic Mucosa	Colon
38	chr4:187476200-187477000	Active TSS	Duodenum Mucosa	Duodenum
39	chr4:187476200-187477000	Bivalent/Poised TSS	NHEK	skin
40	chr4:187476200-187477200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
41	chr4:187476400-187476800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr4:187476400-187476800	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr4:187476400-187476800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr4:187476400-187476800	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr4:187476400-187476800	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
46	chr4:187476400-187476800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr4:187476400-187476800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr4:187476400-187476800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
49	chr4:187476400-187476800	Bivalent/Poised TSS	Fetal Brain Female	brain
50	chr4:187476400-187476800	Bivalent/Poised TSS	HepG2	liver

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