Variant report

Variant	rs569606866
Chromosome Location	chr4:22516780-22516781
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	GATA1	chr4:22516775-22517401	PBDE	blood:	n/a	chr4:22517099-22517106 chr4:22517088-22517105 chr4:22517092-22517113 chr4:22517097-22517107 chr4:22517099-22517106 chr4:22517099-22517106
2	MYC	chr4:22516666-22517213	H1-hESC	embryonic stem cell:	n/a	chr4:22516853-22516862
3	MXI1	chr4:22516548-22517317	Hela-S3	cervix:	n/a	n/a
4	FOXA2	chr4:22516706-22516994	A549	lung:	n/a	n/a
5	POLR2A	chr4:22516603-22517256	SK-N-MC	brain:	n/a	n/a
6	USF1	chr4:22516639-22517136	ECC-1	luminal epithelium:	n/a	n/a
7	RAD21	chr4:22516606-22517206	IMR90	lung:	n/a	chr4:22517027-22517037 chr4:22517025-22517037
8	USF1	chr4:22516681-22517137	SK-N-SH	brain:	n/a	n/a
9	RCOR1	chr4:22516702-22517150	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr4:22516558-22518511	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr4:22516676-22517207	HL-60	blood:	n/a	n/a
12	CTCF	chr4:22516760-22517050	NHDF-neo	bronchial:	n/a	n/a
13	FOXA1	chr4:22516720-22516921	T-47D	breast:	n/a	n/a
14	USF1	chr4:22516727-22517116	SK-N-SH_RA	brain:	n/a	n/a
15	YY1	chr4:22516757-22518175	HepG2	liver:	n/a	chr4:22517570-22517581
16	BHLHE40	chr4:22516675-22517299	HepG2	liver:	n/a	n/a
17	POLR2A	chr4:22516598-22518446	H1-hESC	embryonic stem cell:	n/a	n/a
18	TAF1	chr4:22516773-22517194	SK-N-SH	brain:	n/a	n/a
19	POLR2A	chr4:22515695-22520041	MCF10A-Er-Src	breast:	n/a	n/a
20	E2F6	chr4:22516630-22517299	H1-hESC	embryonic stem cell:	n/a	chr4:22517052-22517059
21	SIN3AK20	chr4:22516705-22517216	HCT-116	colon:	n/a	n/a
22	MYC	chr4:22515742-22518396	MCF10A-Er-Src	breast:	n/a	chr4:22516853-22516862
23	MAX	chr4:22516432-22517259	H1-hESC	embryonic stem cell:	n/a	chr4:22516853-22516862
24	USF1	chr4:22516688-22517194	H1-hESC	embryonic stem cell:	n/a	n/a
25	MAX	chr4:22516555-22517227	ECC-1	luminal epithelium:	n/a	chr4:22516853-22516862
26	POLR2A	chr4:22516532-22518483	MCF10A-Er-Src	breast:	n/a	n/a
27	CHD1	chr4:22516300-22517297	H1-hESC	embryonic stem cell:	n/a	chr4:22517052-22517059
28	JUND	chr4:22516744-22517104	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr4:22516582-22517321	HL-60	blood:	n/a	n/a
30	USF2	chr4:22516684-22517034	HepG2	liver:	n/a	chr4:22516852-22516863
31	USF1	chr4:22516761-22517033	A549	lung:	n/a	n/a
32	CTCF	chr4:22516680-22516830	HRPEpiC	eye:	n/a	n/a
33	HA-E2F1	chr4:22516751-22518028	Hela-S3	cervix:	n/a	chr4:22517416-22517426 chr4:22517052-22517059
34	HA-E2F1	chr4:22516551-22518396	MCF-7	breast:	n/a	chr4:22517416-22517426 chr4:22517052-22517059
35	MAX	chr4:22516547-22518392	A549	lung:	n/a	chr4:22516853-22516862
36	TEAD4	chr4:22516613-22517187	HepG2	liver:	n/a	n/a
37	POLR2A	chr4:22515612-22519946	HepG2	liver:	n/a	n/a
38	USF2	chr4:22516681-22517038	Hela-S3	cervix:	n/a	chr4:22516852-22516863
39	USF2	chr4:22516683-22517000	GM12878	blood:	n/a	chr4:22516852-22516863
40	ZNF143	chr4:22516704-22517391	H1-hESC	embryonic stem cell:	n/a	chr4:22516881-22516891
41	SETDB1	chr4:22516776-22517149	U2OS	brain:	n/a	n/a
42	CHD2	chr4:22516538-22517269	HepG2	liver:	n/a	chr4:22517052-22517059
43	SMC3	chr4:22516102-22517198	Hela-S3	cervix:	n/a	chr4:22517027-22517037
44	POLR2A	chr4:22516761-22518082	ECC-1	luminal epithelium:	n/a	n/a
45	POLR2A	chr4:22516531-22517229	HepG2	liver:	n/a	n/a
46	ZNF263	chr4:22516251-22518354	HEK293-T-REx	kidney:	n/a	chr4:22517820-22517829 chr4:22517644-22517665
47	ZNF143	chr4:22516750-22517731	GM12878	blood:	n/a	chr4:22516881-22516891 chr4:22517411-22517429
48	TCF7L2	chr4:22516620-22518040	HCT-116	colon:	n/a	n/a
49	SIN3AK20	chr4:22516686-22517196	PFSK-1	brain:	n/a	n/a
50	TBP	chr4:22516636-22518285	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
GPR125	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3349061	chr4:22379581-22887563	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv821634	chr4:22427074-22865948	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv3375345	chr4:22516479-22519027	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv3410356	chr4:22516604-22518702	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22515200-22518000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr4:22515200-22518200	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr4:22515400-22518000	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr4:22515400-22518200	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr4:22515600-22516800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr4:22515600-22516800	Flanking Active TSS	Osteobl	bone
7	chr4:22515600-22517000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr4:22515600-22517000	Flanking Active TSS	Liver	Liver
9	chr4:22515600-22517000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
10	chr4:22515600-22517000	Flanking Active TSS	HUVEC	blood vessel
11	chr4:22515600-22518000	Active TSS	Fetal Muscle Leg	muscle
12	chr4:22515600-22518200	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr4:22515600-22518400	Active TSS	H9 Cell Line	embryonic stem cell
14	chr4:22515600-22518400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:22515600-22518400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr4:22515600-22518400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr4:22515800-22516800	Active TSS	Fetal Muscle Trunk	muscle
18	chr4:22515800-22517000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:22515800-22517000	Flanking Active TSS	Fetal Brain Female	brain
20	chr4:22515800-22517800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr4:22515800-22518000	Active TSS	H1 Cell Line	embryonic stem cell
22	chr4:22515800-22518000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr4:22515800-22518000	Active TSS	HMEC	breast
24	chr4:22515800-22518200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:22515800-22518200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr4:22515800-22518200	Active TSS	Aorta	Aorta
27	chr4:22515800-22518200	Active TSS	Brain Substantia Nigra	brain
28	chr4:22515800-22518400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr4:22515800-22518400	Active TSS	Psoas Muscle	Psoas
30	chr4:22515800-22518400	Active TSS	HSMM	muscle
31	chr4:22515800-22518800	Active TSS	Rectal Mucosa Donor 29	rectum
32	chr4:22516000-22516800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr4:22516000-22517000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr4:22516000-22517000	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr4:22516000-22517000	Active TSS	Fetal Heart	heart
36	chr4:22516000-22517200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr4:22516000-22517200	Active TSS	Stomach Mucosa	stomach
38	chr4:22516000-22518000	Active TSS	Fetal Intestine Large	intestine
39	chr4:22516000-22518000	Active TSS	Right Ventricle	heart
40	chr4:22516000-22518000	Active TSS	Hela-S3	cervix
41	chr4:22516000-22518200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr4:22516000-22518200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr4:22516000-22518200	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr4:22516000-22518200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr4:22516000-22518200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr4:22516000-22518200	Active TSS	Fetal Intestine Small	intestine
47	chr4:22516000-22518400	Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr4:22516000-22518400	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr4:22516000-22518400	Active TSS	Ovary	ovary
50	chr4:22516000-22518400	Active TSS	Right Atrium	heart

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