Variant report

Variant	rs528006874
Chromosome Location	chr4:22516881-22516882
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	TAF1	chr4:22516859-22517151	Hela-S3	cervix:	n/a	n/a
2	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
3	MYC	chr4:22516666-22517213	H1-hESC	embryonic stem cell:	n/a	chr4:22516853-22516862
4	MXI1	chr4:22516548-22517317	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr4:22516881-22517210	IMR90	lung:	n/a	n/a
6	FOXA2	chr4:22516706-22516994	A549	lung:	n/a	n/a
7	CTCF	chr4:22516880-22517030	HAc	cerebellar:	n/a	n/a
8	POLR2A	chr4:22516603-22517256	SK-N-MC	brain:	n/a	n/a
9	POLR2A	chr4:22516823-22518178	A549	lung:	n/a	n/a
10	MYC	chr4:22516803-22517289	MCF-7	breast:	n/a	chr4:22516853-22516862
11	MYC	chr4:22516861-22517081	Hela-S3	cervix:	n/a	n/a
12	USF1	chr4:22516639-22517136	ECC-1	luminal epithelium:	n/a	n/a
13	RAD21	chr4:22516606-22517206	IMR90	lung:	n/a	chr4:22517027-22517037 chr4:22517025-22517037
14	USF1	chr4:22516681-22517137	SK-N-SH	brain:	n/a	n/a
15	RCOR1	chr4:22516702-22517150	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr4:22516558-22518511	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr4:22516676-22517207	HL-60	blood:	n/a	n/a
18	CTCF	chr4:22516760-22517050	NHDF-neo	bronchial:	n/a	n/a
19	FOXA1	chr4:22516720-22516921	T-47D	breast:	n/a	n/a
20	USF1	chr4:22516727-22517116	SK-N-SH_RA	brain:	n/a	n/a
21	YY1	chr4:22516757-22518175	HepG2	liver:	n/a	chr4:22517570-22517581
22	BHLHE40	chr4:22516675-22517299	HepG2	liver:	n/a	n/a
23	ARID3A	chr4:22516834-22517061	HepG2	liver:	n/a	n/a
24	POLR2A	chr4:22516598-22518446	H1-hESC	embryonic stem cell:	n/a	n/a
25	TAF1	chr4:22516773-22517194	SK-N-SH	brain:	n/a	n/a
26	POLR2A	chr4:22515695-22520041	MCF10A-Er-Src	breast:	n/a	n/a
27	E2F6	chr4:22516630-22517299	H1-hESC	embryonic stem cell:	n/a	chr4:22517052-22517059
28	SIN3AK20	chr4:22516705-22517216	HCT-116	colon:	n/a	n/a
29	MYC	chr4:22515742-22518396	MCF10A-Er-Src	breast:	n/a	chr4:22516853-22516862
30	MAX	chr4:22516432-22517259	H1-hESC	embryonic stem cell:	n/a	chr4:22516853-22516862
31	USF1	chr4:22516688-22517194	H1-hESC	embryonic stem cell:	n/a	n/a
32	MAX	chr4:22516555-22517227	ECC-1	luminal epithelium:	n/a	chr4:22516853-22516862
33	POLR2A	chr4:22516532-22518483	MCF10A-Er-Src	breast:	n/a	n/a
34	CTCF	chr4:22516800-22516950	NHDF-neo	bronchial:	n/a	n/a
35	GATA2	chr4:22516792-22517579	SH-SY5Y	brain:	n/a	chr4:22517099-22517106 chr4:22517088-22517105 chr4:22517092-22517113 chr4:22517097-22517107 chr4:22517099-22517106 chr4:22517099-22517106
36	POLR2A	chr4:22516794-22517274	HCT-116	colon:	n/a	n/a
37	CHD1	chr4:22516300-22517297	H1-hESC	embryonic stem cell:	n/a	chr4:22517052-22517059
38	JUND	chr4:22516744-22517104	H1-hESC	embryonic stem cell:	n/a	n/a
39	RAD21	chr4:22516836-22517215	SK-N-SH_RA	brain:	n/a	chr4:22517027-22517037 chr4:22517025-22517037
40	POLR2A	chr4:22516582-22517321	HL-60	blood:	n/a	n/a
41	USF2	chr4:22516684-22517034	HepG2	liver:	n/a	chr4:22516852-22516863
42	USF1	chr4:22516761-22517033	A549	lung:	n/a	n/a
43	MYC	chr4:22516829-22517778	MCF-7	breast:	n/a	chr4:22516853-22516862
44	HA-E2F1	chr4:22516751-22518028	Hela-S3	cervix:	n/a	chr4:22517416-22517426 chr4:22517052-22517059
45	HA-E2F1	chr4:22516551-22518396	MCF-7	breast:	n/a	chr4:22517416-22517426 chr4:22517052-22517059
46	POLR2A	chr4:22516862-22518166	A549	lung:	n/a	n/a
47	RCOR1	chr4:22516848-22517293	HepG2	liver:	n/a	n/a
48	MAX	chr4:22516547-22518392	A549	lung:	n/a	chr4:22516853-22516862
49	TEAD4	chr4:22516613-22517187	HepG2	liver:	n/a	n/a
50	POLR2A	chr4:22515612-22519946	HepG2	liver:	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	chr4:22515600-22517000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr4:22515600-22517000	Flanking Active TSS	Liver	Liver
7	chr4:22515600-22517000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
8	chr4:22515600-22517000	Flanking Active TSS	HUVEC	blood vessel
9	chr4:22515600-22518000	Active TSS	Fetal Muscle Leg	muscle
10	chr4:22515600-22518200	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr4:22515600-22518400	Active TSS	H9 Cell Line	embryonic stem cell
12	chr4:22515600-22518400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:22515600-22518400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:22515600-22518400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr4:22515800-22517000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:22515800-22517000	Flanking Active TSS	Fetal Brain Female	brain
17	chr4:22515800-22517800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr4:22515800-22518000	Active TSS	H1 Cell Line	embryonic stem cell
19	chr4:22515800-22518000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr4:22515800-22518000	Active TSS	HMEC	breast
21	chr4:22515800-22518200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:22515800-22518200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr4:22515800-22518200	Active TSS	Aorta	Aorta
24	chr4:22515800-22518200	Active TSS	Brain Substantia Nigra	brain
25	chr4:22515800-22518400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr4:22515800-22518400	Active TSS	Psoas Muscle	Psoas
27	chr4:22515800-22518400	Active TSS	HSMM	muscle
28	chr4:22515800-22518800	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr4:22516000-22517000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr4:22516000-22517000	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr4:22516000-22517000	Active TSS	Fetal Heart	heart
32	chr4:22516000-22517200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr4:22516000-22517200	Active TSS	Stomach Mucosa	stomach
34	chr4:22516000-22518000	Active TSS	Fetal Intestine Large	intestine
35	chr4:22516000-22518000	Active TSS	Right Ventricle	heart
36	chr4:22516000-22518000	Active TSS	Hela-S3	cervix
37	chr4:22516000-22518200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr4:22516000-22518200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr4:22516000-22518200	Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr4:22516000-22518200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr4:22516000-22518200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr4:22516000-22518200	Active TSS	Fetal Intestine Small	intestine
43	chr4:22516000-22518400	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr4:22516000-22518400	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr4:22516000-22518400	Active TSS	Ovary	ovary
46	chr4:22516000-22518400	Active TSS	Right Atrium	heart
47	chr4:22516000-22518600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr4:22516200-22517000	Flanking Active TSS	Primary T cells from cord blood	blood
49	chr4:22516200-22517000	Bivalent/Poised TSS	GM12878-XiMat	blood
50	chr4:22516200-22517000	Bivalent/Poised TSS	HepG2	liver

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