Variant report

Variant	rs113749128
Chromosome Location	chr4:187476564-187476565
allele	A/C
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	MAX	chr4:187476136-187477089	ECC-1	luminal epithelium:	n/a	chr4:187476653-187476662 chr4:187476608-187476617 chr4:187476677-187476688
2	CTCF	chr4:187476561-187476911	ECC-1	luminal epithelium:	n/a	chr4:187476681-187476699 chr4:187476682-187476698
3	POLR2A	chr4:187476538-187476584	H1-hESC	embryonic stem cell:	n/a	n/a
4	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
5	CTCF	chr4:187476443-187477110	A549	lung:	n/a	chr4:187476681-187476699 chr4:187476682-187476698
6	CTCF	chr4:187476556-187476896	A549	lung:	n/a	chr4:187476681-187476699 chr4:187476682-187476698
7	MAX	chr4:187476206-187477091	H1-hESC	embryonic stem cell:	n/a	chr4:187476653-187476662 chr4:187476608-187476617 chr4:187476677-187476688
8	MYC	chr4:187476324-187477124	H1-hESC	embryonic stem cell:	n/a	chr4:187476653-187476662 chr4:187476608-187476617 chr4:187476677-187476688
9	MAX	chr4:187476113-187477137	A549	lung:	n/a	chr4:187476653-187476662 chr4:187476608-187476617 chr4:187476677-187476688
10	MAX	chr4:187476133-187477114	ECC-1	luminal epithelium:	n/a	chr4:187476653-187476662 chr4:187476608-187476617 chr4:187476677-187476688
11	MAX	chr4:187476171-187477022	H1-hESC	embryonic stem cell:	n/a	chr4:187476653-187476662 chr4:187476608-187476617 chr4:187476677-187476688
12	CTBP2	chr4:187475979-187476923	H1-hESC	embryonic stem cell:	n/a	n/a
13	RAD21	chr4:187476548-187476907	HepG2	liver:	n/a	chr4:187476688-187476697 chr4:187476679-187476698
14	GABPA	chr4:187476233-187476977	H1-hESC	embryonic stem cell:	n/a	chr4:187476603-187476612 chr4:187476719-187476728 chr4:187476640-187476649
15	HDAC2	chr4:187476347-187476999	H1-hESC	embryonic stem cell:	n/a	n/a
16	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
17	CTCF	chr4:187476511-187476972	H1-hESC	embryonic stem cell:	n/a	chr4:187476681-187476699 chr4:187476682-187476698
18	TBP	chr4:187475720-187476901	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAX	chr4:187476370-187476973	A549	lung:	n/a	chr4:187476653-187476662 chr4:187476608-187476617 chr4:187476677-187476688
20	RAD21	chr4:187476206-187477006	ECC-1	luminal epithelium:	n/a	chr4:187476688-187476697 chr4:187476679-187476698
21	RAD21	chr4:187476109-187477055	H1-hESC	embryonic stem cell:	n/a	chr4:187476688-187476697 chr4:187476679-187476698
22	RAD21	chr4:187476532-187476920	HepG2	liver:	n/a	chr4:187476688-187476697 chr4:187476679-187476698
23	POLR2A	chr4:187476316-187476725	A549	lung:	n/a	n/a
24	CTCF	chr4:187476538-187476917	H1-hESC	embryonic stem cell:	n/a	chr4:187476681-187476699 chr4:187476682-187476698
25	CEBPB	chr4:187476382-187476666	H1-hESC	embryonic stem cell:	n/a	n/a
26	MAX	chr4:187476270-187476964	HepG2	liver:	n/a	chr4:187476653-187476662 chr4:187476608-187476617 chr4:187476677-187476688
27	MAX	chr4:187476187-187477040	A549	lung:	n/a	chr4:187476653-187476662 chr4:187476608-187476617 chr4:187476677-187476688
28	SIN3A	chr4:187475556-187476968	H1-hESC	embryonic stem cell:	n/a	chr4:187476777-187476788 chr4:187476597-187476610 chr4:187476775-187476788
29	RAD21	chr4:187476410-187476903	H1-hESC	embryonic stem cell:	n/a	chr4:187476688-187476697 chr4:187476679-187476698
30	RAD21	chr4:187476222-187476976	H1-hESC	embryonic stem cell:	n/a	chr4:187476688-187476697 chr4:187476679-187476698
31	BACH1	chr4:187476293-187476945	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr4:187476404-187476572	A549	lung:	n/a	n/a
33	RAD21	chr4:187476506-187477025	HCT-116	colon:	n/a	chr4:187476688-187476697 chr4:187476679-187476698
34	ZNF143	chr4:187476397-187476983	H1-hESC	embryonic stem cell:	n/a	n/a
35	RAD21	chr4:187476489-187477040	A549	lung:	n/a	chr4:187476688-187476697 chr4:187476679-187476698
36	E2F6	chr4:187476204-187477032	H1-hESC	embryonic stem cell:	n/a	chr4:187476319-187476328 chr4:187476719-187476728 chr4:187476640-187476649 chr4:187476781-187476791
37	MAX	chr4:187476250-187476853	MCF-7	breast:	n/a	chr4:187476653-187476662 chr4:187476608-187476617 chr4:187476677-187476688
38	RAD21	chr4:187476534-187477110	HCT-116	colon:	n/a	chr4:187476688-187476697 chr4:187476679-187476698
39	ZNF263	chr4:187475664-187477005	HEK293-T-REx	kidney:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:187476543-187476593	GM19239	blood:	n/a
2	chr4:187476543-187476593	AG09319	gingival:	n/a
3	chr4:187476543-187476593	Jurkat	blood:	n/a
4	chr4:187476543-187476593	HCF	heart:	n/a
5	chr4:187476543-187476593	U87	brain:	n/a
6	chr4:187476543-187476593	HCPEpiC	choroid plexus:	n/a
7	chr4:187476543-187476593	NT2-D1	testis:	n/a
8	chr4:187476543-187476593	AG09309	skin:	n/a
9	chr4:187476543-187476593	AoSMC	blood vessel:	n/a
10	chr4:187476543-187476593	NHBE	bronchial:	n/a
11	chr4:187476543-187476593	AG04450	lung:	fetal
12	chr4:187476543-187476593	T-47D	breast:	n/a
13	chr4:187476543-187476593	CMK	blood:	n/a
14	chr4:187476543-187476593	ECC-1	luminal epithelium:	n/a
15	chr4:187476543-187476593	PrEC	prostate:	n/a
16	chr4:187476543-187476593	SAEC	small airway:	n/a
17	chr4:187476543-187476593	HepG2	liver:	n/a
18	chr4:187476543-187476593	HRE	kidney:	n/a
19	chr4:187476543-187476593	LNCaP	prostate:	n/a
20	chr4:187476543-187476593	GM12891	blood:	n/a
21	chr4:187476543-187476593	ProgFib	skin:	n/a
22	chr4:187476543-187476593	MCF10A-Er-Src	breast:	n/a
23	chr4:187476543-187476593	GM12892	blood:	n/a
24	chr4:187476543-187476593	HEEpiC	esophagus:	n/a
25	chr4:187476543-187476593	NH-A	brain:	n/a
26	chr4:187476543-187476593	BE2_C	brain:	n/a
27	chr4:187476543-187476593	PANC-1	pancreas:	n/a
28	chr4:187476543-187476593	HMEC	breast:	n/a
29	chr4:187476543-187476593	NB4	blood:	n/a
30	chr4:187476543-187476593	K562	blood:	n/a
31	chr4:187476543-187476593	IMR90	lung:	fetal
32	chr4:187476543-187476593	SKMC	muscle:	n/a
33	chr4:187476543-187476593	HIPEpiC	eye:	n/a
34	chr4:187476543-187476593	HUVEC	blood vessel:	n/a
35	chr4:187476543-187476593	SK-N-MC	brain:	n/a
36	chr4:187476543-187476593	BJ	skin:	n/a
37	chr4:187476543-187476593	SK-N-SH_RA	brain:	n/a
38	chr4:187476543-187476593	ovcar-3	ovarian:	n/a
39	chr4:187476543-187476593	HCT-116	colon:	n/a
40	chr4:187476543-187476593	SK-N-SH	brain:	n/a
41	chr4:187476543-187476593	GM12878	blood:	n/a
42	chr4:187476543-187476593	Caco-2	colon:	n/a
43	chr4:187476543-187476593	HEK293	kidney:	embryo
44	chr4:187476543-187476593	AG10803	skin:	n/a
45	chr4:187476543-187476593	Hepatocyte	liver:	n/a
46	chr4:187476543-187476593	HAEpiC	amniotic membrane:	n/a
47	chr4:187476543-187476593	HRPEpiC	eye:	n/a
48	chr4:187476543-187476593	HRCEpiC	kidney:	n/a
49	chr4:187476543-187476593	RPTEC	kidney:	n/a
50	chr4:187476543-187476593	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
ENSG00000272297	TF binding region
ENSG00000272297	CpG island

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:85 , 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	chr4:187475200-187476600	Bivalent/Poised TSS	Small Intestine	intestine
5	chr4:187475200-187477200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr4:187475400-187477000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr4:187475600-187476600	Bivalent/Poised TSS	Brain Angular Gyrus	brain
8	chr4:187475600-187476800	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
9	chr4:187475600-187477000	Active TSS	H9 Cell Line	embryonic stem cell
10	chr4:187475600-187477000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr4:187475800-187476600	Bivalent Enhancer	Adipose Nuclei	Adipose
12	chr4:187475800-187476600	Bivalent Enhancer	Liver	Liver
13	chr4:187475800-187476600	Bivalent/Poised TSS	Brain Substantia Nigra	brain
14	chr4:187475800-187476600	Flanking Active TSS	HMEC	breast
15	chr4:187475800-187476600	Bivalent/Poised TSS	HSMMtube	muscle
16	chr4:187475800-187476800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:187475800-187476800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr4:187475800-187476800	Flanking Bivalent TSS/Enh	Right Ventricle	heart
19	chr4:187475800-187477000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
20	chr4:187475800-187477000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
21	chr4:187475800-187477000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
22	chr4:187475800-187477000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr4:187475800-187477000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr4:187475800-187477000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr4:187475800-187477000	Active TSS	Brain Anterior Caudate	brain
26	chr4:187475800-187477000	Enhancers	Spleen	Spleen
27	chr4:187475800-187477000	Active TSS	A549	lung
28	chr4:187475800-187477200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
29	chr4:187476000-187476600	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr4:187476000-187476600	Flanking Active TSS	Pancreas	Pancrea
31	chr4:187476000-187476600	Active TSS	NHLF	lung
32	chr4:187476000-187476800	Bivalent/Poised TSS	Psoas Muscle	Psoas
33	chr4:187476000-187477000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr4:187476000-187477000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr4:187476000-187477000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
36	chr4:187476000-187477000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
37	chr4:187476000-187477000	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr4:187476000-187477000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr4:187476000-187477000	Bivalent Enhancer	Placenta	Placenta
40	chr4:187476200-187476600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr4:187476200-187476600	Flanking Bivalent TSS/Enh	Ovary	ovary
42	chr4:187476200-187476600	Flanking Bivalent TSS/Enh	Placenta Amnion	Placenta Amnion
43	chr4:187476200-187476600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
44	chr4:187476200-187476800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr4:187476200-187476800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr4:187476200-187476800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr4:187476200-187476800	Active TSS	Right Atrium	heart
48	chr4:187476200-187476800	Bivalent/Poised TSS	HSMM	muscle
49	chr4:187476200-187477000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr4:187476200-187477000	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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