Variant report

Variant	rs567063509
Chromosome Location	chr4:110354793-110354794
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	HEY1	chr4:110354311-110355195	K562	blood:	n/a	chr4:110354644-110354659 chr4:110354755-110354770 chr4:110354733-110354748 chr4:110354706-110354721 chr4:110354742-110354757
2	MAX	chr4:110354394-110355102	A549	lung:	n/a	chr4:110354792-110354801
3	ETS1	chr4:110354458-110355322	K562	blood:	n/a	n/a
4	MXI1	chr4:110353193-110356505	SK-N-SH	brain:	n/a	n/a
5	CEBPD	chr4:110354505-110355207	HepG2	liver:	n/a	n/a
6	POLR2A	chr4:110354384-110355335	A549	lung:	n/a	n/a
7	MTA3	chr4:110354365-110355007	GM12878	blood:	n/a	n/a
8	GABPA	chr4:110354480-110354907	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr4:110354348-110355233	HCT-116	colon:	n/a	chr4:110354792-110354801
10	IRF1	chr4:110354558-110355157	K562	blood:	n/a	n/a
11	POLR2A	chr4:110354445-110355332	HUVEC	blood vessel:	n/a	n/a
12	MYC	chr4:110354376-110355322	MCF10A-Er-Src	breast:	n/a	chr4:110354792-110354801
13	CTCF	chr4:110354518-110354925	H1-hESC	embryonic stem cell:	n/a	chr4:110354711-110354724 chr4:110354716-110354732 chr4:110354715-110354733 chr4:110354718-110354731
14	CEBPB	chr4:110354588-110355000	Hela-S3	cervix:	n/a	n/a
15	ZMIZ1	chr4:110354609-110354979	K562	blood:	n/a	n/a
16	HDAC2	chr4:110354508-110355098	MCF-7	breast:	n/a	chr4:110354755-110354764
17	MAX	chr4:110354441-110355193	GM12878	blood:	n/a	chr4:110354792-110354801
18	SPI1	chr4:110354560-110355339	GM12878	blood:	n/a	n/a
19	CTCF	chr4:110354581-110354862	Hela-S3	cervix:	n/a	chr4:110354711-110354724 chr4:110354716-110354732 chr4:110354715-110354733 chr4:110354718-110354731
20	POLR2A	chr4:110353759-110355360	HUVEC	blood vessel:	n/a	n/a
21	POU2F2	chr4:110354386-110355070	GM12878	blood:	n/a	n/a
22	POLR2A	chr4:110353823-110355229	MCF10A-Er-Src	breast:	n/a	n/a
23	YY1	chr4:110354309-110354980	H1-hESC	embryonic stem cell:	n/a	chr4:110354752-110354766 chr4:110354534-110354543 chr4:110354721-110354735
24	GTF2F1	chr4:110354458-110355092	H1-hESC	embryonic stem cell:	n/a	n/a
25	PML	chr4:110354225-110355112	K562	blood:	n/a	n/a
26	POLR2A	chr4:110353844-110355373	H1-hESC	embryonic stem cell:	n/a	n/a
27	FOS	chr4:110354779-110354916	MCF10A-Er-Src	breast:	n/a	n/a
28	PAX5	chr4:110354597-110354918	GM12878	blood:	n/a	n/a
29	CHD2	chr4:110354399-110355043	GM12878	blood:	n/a	n/a
30	GABPA	chr4:110354533-110354849	H1-hESC	embryonic stem cell:	n/a	n/a
31	KAP1	chr4:110354457-110354883	HEK293	kidney:	n/a	n/a
32	POLR2A	chr4:110354737-110355142	HepG2	liver:	n/a	n/a
33	ZNF143	chr4:110354552-110355043	K562	blood:	n/a	chr4:110354724-110354734
34	CTCF	chr4:110354311-110354947	K562	blood:	n/a	chr4:110354711-110354724 chr4:110354716-110354732 chr4:110354715-110354733 chr4:110354718-110354731
35	ZBTB7A	chr4:110354564-110354914	HepG2	liver:	n/a	chr4:110354723-110354732
36	CTCF	chr4:110354578-110355014	NHEK	skin:	n/a	chr4:110354711-110354724 chr4:110354716-110354732 chr4:110354715-110354733 chr4:110354718-110354731
37	BACH1	chr4:110354432-110355016	H1-hESC	embryonic stem cell:	n/a	n/a
38	TCF7L2	chr4:110354513-110355230	HCT-116	colon:	n/a	n/a
39	CTCF	chr4:110354499-110354943	K562	blood:	n/a	chr4:110354711-110354724 chr4:110354716-110354732 chr4:110354715-110354733 chr4:110354718-110354731
40	CEBPB	chr4:110354600-110354908	H1-hESC	embryonic stem cell:	n/a	n/a
41	BHLHE40	chr4:110354288-110355032	K562	blood:	n/a	chr4:110354719-110354735 chr4:110354642-110354658 chr4:110354645-110354661
42	POU2F2	chr4:110354471-110354998	GM12891	blood:	n/a	n/a
43	RAD21	chr4:110354518-110355000	A549	lung:	n/a	chr4:110354721-110354733 chr4:110354716-110354735 chr4:110354721-110354731 chr4:110354717-110354731
44	POLR2A	chr4:110354740-110355126	SK-N-MC	brain:	n/a	n/a
45	CREB1	chr4:110354429-110355267	HepG2	liver:	n/a	n/a
46	POLR2A	chr4:110354422-110355226	GM12878	blood:	n/a	n/a
47	E2F6	chr4:110354508-110354837	K562	blood:	n/a	chr4:110354653-110354663
48	SPI1	chr4:110354736-110355086	GM12878	blood:	n/a	n/a
49	ZEB1	chr4:110354636-110354961	GM12878	blood:	n/a	n/a
50	CTCF	chr4:110354564-110354970	GM19240	blood:	n/a	chr4:110354711-110354724 chr4:110354716-110354732 chr4:110354715-110354733 chr4:110354718-110354731

No.	Distal block	Cell Line	Cell type
1	chr4:110354421..110354923-chr7:44084218..44084744,2	Hela-S3	cervix:
2	chr4:110353826..110356085-chr4:110735938..110738635,3	MCF-7	breast:
3	chr4:110352891..110355275-chr4:110649929..110651520,2	MCF-7	breast:
4	chr4:109540362..109542277-chr4:110353620..110356489,2	K562	blood:
5	chr4:110353269..110354820-chr4:110577196..110580148,2	MCF-7	breast:
6	chr4:110354680..110356371-chr4:110650734..110652526,2	MCF-7	breast:
7	chr4:110353323..110356452-chr4:110478874..110481567,4	MCF-7	breast:

Variant related genes	Relation type
SEC24B	TF binding region
ENSG00000109534	Chromatin interaction
ENSG00000234492	Chromatin interaction
ENSG00000109475	Chromatin interaction
ENSG00000272795	Chromatin interaction
ENSG00000005059	Chromatin interaction
ENSG00000123739	Chromatin interaction
ENSG00000136279	Chromatin interaction

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	nsv461613	chr4:109922064-110593460	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv595129	chr4:109922064-110593460	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv1793428	chr4:110340134-110355591	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	esv3349784	chr4:110348873-110723163	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	esv1840909	chr4:110350409-110355591	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	esv3325631	chr4:110354028-110356876	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	esv3341942	chr4:110354303-110356451	Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	esv18036	chr4:110354603-110355647	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv595132	chr4:110354632-110355101	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv595133	chr4:110354632-110355196	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv595134	chr4:110354632-110355427	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv595135	chr4:110354632-110355483	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
13	nsv595136	chr4:110354632-110355591	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
14	esv1836921	chr4:110354632-110370867	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
15	esv1839822	chr4:110354632-110370867	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
16	nsv595137	chr4:110354691-110355196	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
17	nsv595138	chr4:110354691-110355345	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
18	nsv595139	chr4:110354691-110355427	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
19	nsv595140	chr4:110354691-110355483	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
20	nsv595141	chr4:110354742-110355483	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110353400-110356600	Active TSS	K562	blood
2	chr4:110353600-110354800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr4:110353600-110357000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:110353800-110356000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:110353800-110356000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:110353800-110356000	Active TSS	Fetal Intestine Large	intestine
7	chr4:110353800-110356400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:110353800-110356400	Active TSS	HSMM	muscle
9	chr4:110353800-110356600	Active TSS	H1 Cell Line	embryonic stem cell
10	chr4:110353800-110356800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr4:110353800-110357000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr4:110354000-110355600	Active TSS	Primary T cells fromperipheralblood	blood
13	chr4:110354000-110355600	Active TSS	Fetal Muscle Trunk	muscle
14	chr4:110354000-110355600	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr4:110354000-110355800	Active TSS	Thymus	Thymus
16	chr4:110354000-110356000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:110354000-110356000	Active TSS	Esophagus	oesophagus
18	chr4:110354000-110356000	Active TSS	Fetal Brain Female	brain
19	chr4:110354000-110356000	Active TSS	Fetal Stomach	stomach
20	chr4:110354000-110356200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr4:110354000-110356200	Active TSS	H9 Cell Line	embryonic stem cell
22	chr4:110354000-110356200	Bivalent/Poised TSS	HepG2	liver
23	chr4:110354000-110356400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr4:110354000-110356400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr4:110354000-110356400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:110354000-110356400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr4:110354000-110356400	Active TSS	Brain Germinal Matrix	brain
28	chr4:110354000-110356400	Active TSS	Right Ventricle	heart
29	chr4:110354000-110356600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr4:110354000-110356800	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr4:110354000-110356800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr4:110354000-110356800	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr4:110354000-110356800	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr4:110354000-110356800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr4:110354000-110356800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr4:110354000-110356800	Active TSS	Colonic Mucosa	Colon
37	chr4:110354000-110356800	Active TSS	Right Atrium	heart
38	chr4:110354000-110356800	Active TSS	A549	lung
39	chr4:110354000-110356800	Active TSS	NHDF-Ad	bronchial
40	chr4:110354000-110357000	Active TSS	HMEC	breast
41	chr4:110354200-110355000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
42	chr4:110354200-110355800	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr4:110354200-110355800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr4:110354200-110355800	Active TSS	Fetal Muscle Leg	muscle
45	chr4:110354200-110355800	Active TSS	Placenta	Placenta
46	chr4:110354200-110356000	Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr4:110354200-110356000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr4:110354200-110356000	Active TSS	Brain Anterior Caudate	brain
49	chr4:110354200-110356000	Active TSS	Fetal Intestine Small	intestine
50	chr4:110354200-110356000	Active TSS	Fetal Lung	lung

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