Variant report

Variant	rs543257791
Chromosome Location	chr5:111755069-111755070
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	TCF7L2	chr5:111753600-111756377	Hela-S3	cervix:	n/a	n/a
2	SMARCB1	chr5:111754225-111756321	Hela-S3	cervix:	n/a	n/a
3	HA-E2F1	chr5:111754459-111756126	Hela-S3	cervix:	n/a	chr5:111755034-111755043 chr5:111755619-111755628
4	MAX	chr5:111754778-111756400	Hela-S3	cervix:	n/a	chr5:111755892-111755902
5	MXI1	chr5:111753384-111756601	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr5:111754454-111756283	MCF-7	breast:	n/a	n/a
7	TCF12	chr5:111754901-111756412	ECC-1	luminal epithelium:	n/a	chr5:111755437-111755447
8	MAX	chr5:111754942-111756475	A549	lung:	n/a	chr5:111755892-111755902
9	EP300	chr5:111754655-111755143	T-47D	breast:	n/a	n/a
10	EP300	chr5:111754707-111755329	T-47D	breast:	n/a	n/a
11	POLR2A	chr5:111754716-111755289	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr5:111754636-111755889	H1-neurons	neurons:	n/a	n/a
13	E2F4	chr5:111754984-111755178	MCF10A-Er-Src	breast:	n/a	chr5:111755034-111755043
14	POLR2A	chr5:111754624-111756320	ECC-1	luminal epithelium:	n/a	n/a
15	MXI1	chr5:111754912-111755112	Hela-S3	cervix:	n/a	n/a
16	REST	chr5:111754679-111756299	H1-neurons	neurons:	n/a	chr5:111755889-111755902 chr5:111755260-111755273 chr5:111755633-111755646
17	POLR2A	chr5:111754779-111756518	Hela-S3	cervix:	n/a	n/a
18	MAX	chr5:111755006-111756483	ECC-1	luminal epithelium:	n/a	chr5:111755892-111755902
19	CHD2	chr5:111754807-111756335	Hela-S3	cervix:	n/a	chr5:111755760-111755770 chr5:111755673-111755683
20	ZNF143	chr5:111754770-111756293	Hela-S3	cervix:	n/a	chr5:111755633-111755643 chr5:111755256-111755274 chr5:111755619-111755637
21	MAX	chr5:111754491-111756483	ECC-1	luminal epithelium:	n/a	chr5:111755892-111755902
22	MAZ	chr5:111754231-111756321	Hela-S3	cervix:	n/a	chr5:111755892-111755902
23	SMC3	chr5:111753598-111756399	Hela-S3	cervix:	n/a	chr5:111755882-111755892 chr5:111756142-111756156
24	ZBTB7A	chr5:111754826-111756423	ECC-1	luminal epithelium:	n/a	n/a
25	RAD21	chr5:111754422-111755266	H1-hESC	embryonic stem cell:	n/a	chr5:111754498-111754508
26	JUND	chr5:111754807-111755330	H1-hESC	embryonic stem cell:	n/a	chr5:111755261-111755270
27	POLR2A	chr5:111754445-111756332	MCF-7	breast:	n/a	n/a
28	TCF12	chr5:111754769-111756556	ECC-1	luminal epithelium:	n/a	chr5:111755437-111755447
29	EP300	chr5:111754437-111756474	ECC-1	luminal epithelium:	n/a	chr5:111754537-111754546 chr5:111755840-111755856 chr5:111754525-111754541
30	RCOR1	chr5:111754818-111756388	Hela-S3	cervix:	n/a	n/a
31	SIN3A	chr5:111753731-111756379	H1-hESC	embryonic stem cell:	n/a	chr5:111754593-111754604 chr5:111755262-111755273
32	ELK1	chr5:111754932-111755111	Hela-S3	cervix:	n/a	n/a
33	RAD21	chr5:111754739-111756413	H1-hESC	embryonic stem cell:	n/a	chr5:111756142-111756152 chr5:111756138-111756157 chr5:111756012-111756021 chr5:111755842-111755855 chr5:111755882-111755892
34	ZKSCAN1	chr5:111754866-111756307	Hela-S3	cervix:	n/a	chr5:111755123-111755136
35	SMARCC1	chr5:111754894-111756321	Hela-S3	cervix:	n/a	n/a
36	ZNF263	chr5:111753746-111756379	HEK293-T-REx	kidney:	n/a	chr5:111754514-111754523
37	POLR2A	chr5:111754247-111756318	Hela-S3	cervix:	n/a	n/a
38	CTBP2	chr5:111754442-111756346	H1-hESC	embryonic stem cell:	n/a	n/a
39	RFX5	chr5:111753436-111755734	Hela-S3	cervix:	n/a	n/a
40	CEBPB	chr5:111755063-111755261	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr5:111754892-111756246	ECC-1	luminal epithelium:	n/a	n/a
42	POLR2A	chr5:111754723-111755548	H1-neurons	neurons:	n/a	n/a
43	TAF1	chr5:111754752-111756480	ECC-1	luminal epithelium:	n/a	n/a
44	POLR2A	chr5:111754800-111756105	HUVEC	blood vessel:	n/a	n/a
45	HA-E2F1	chr5:111754158-111756329	MCF-7	breast:	n/a	chr5:111755034-111755043 chr5:111755619-111755628
46	ZNF143	chr5:111754813-111755210	H1-hESC	embryonic stem cell:	n/a	n/a
47	GATA1	chr5:111755024-111756357	PBDE	blood:	n/a	n/a
48	ZBTB7A	chr5:111754363-111756376	ECC-1	luminal epithelium:	n/a	n/a
49	POLR2A	chr5:111754907-111755096	HUVEC	blood vessel:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:111755067-111755117	NB4	blood:	n/a
2	chr5:111755067-111755117	MCF-7	breast:	n/a
3	chr5:111755041-111755091	SK-N-MC	brain:	n/a
4	chr5:111755041-111755091	HRCEpiC	kidney:	n/a
5	chr5:111755053-111755103	GM06990	blood:	n/a
6	chr5:111755067-111755117	HUVEC	blood vessel:	n/a
7	chr5:111755067-111755117	GM12892	blood:	n/a
8	chr5:111755041-111755091	GM19239	blood:	n/a
9	chr5:111755067-111755117	GM19239	blood:	n/a
10	chr5:111755053-111755103	HIPEpiC	eye:	n/a
11	chr5:111755067-111755117	HNPCEpiC	eye:	n/a
12	chr5:111755041-111755091	HCT-116	colon:	n/a
13	chr5:111755041-111755091	A549	lung:	n/a
14	chr5:111755041-111755091	HUVEC	blood vessel:	n/a
15	chr5:111755053-111755103	PFSK-1	brain:	n/a
16	chr5:111755053-111755103	NT2-D1	testis:	n/a
17	chr5:111755053-111755103	Hepatocyte	liver:	n/a
18	chr5:111755053-111755103	A549	lung:	n/a
19	chr5:111755041-111755091	HRE	kidney:	n/a
20	chr5:111755041-111755091	AG04449	skin:	fetal
21	chr5:111755041-111755091	ECC-1	luminal epithelium:	n/a
22	chr5:111755067-111755117	HRCEpiC	kidney:	n/a
23	chr5:111755067-111755117	K562	blood:	n/a
24	chr5:111755041-111755091	Caco-2	colon:	n/a
25	chr5:111755041-111755091	HL-60	blood:	n/a
26	chr5:111755067-111755117	AG10803	skin:	n/a
27	chr5:111755053-111755103	AG04449	skin:	fetal
28	chr5:111755067-111755117	HRPEpiC	eye:	n/a
29	chr5:111755053-111755103	BE2_C	brain:	n/a
30	chr5:111755067-111755117	AG04450	lung:	fetal
31	chr5:111755041-111755091	HNPCEpiC	eye:	n/a
32	chr5:111755041-111755091	PANC-1	pancreas:	n/a
33	chr5:111755067-111755117	PANC-1	pancreas:	n/a
34	chr5:111755053-111755103	RPTEC	kidney:	n/a
35	chr5:111755041-111755091	NB4	blood:	n/a
36	chr5:111755067-111755117	A549	lung:	n/a
37	chr5:111755041-111755091	NH-A	brain:	n/a
38	chr5:111755053-111755103	ProgFib	skin:	n/a
39	chr5:111755041-111755091	MCF-7	breast:	n/a
40	chr5:111755067-111755117	ProgFib	skin:	n/a
41	chr5:111755053-111755103	NHBE	bronchial:	n/a
42	chr5:111755041-111755091	AG10803	skin:	n/a
43	chr5:111755067-111755117	RPTEC	kidney:	n/a
44	chr5:111755053-111755103	NB4	blood:	n/a
45	chr5:111755053-111755103	SK-N-SH_RA	brain:	n/a
46	chr5:111755053-111755103	T-47D	breast:	n/a
47	chr5:111755053-111755103	HCPEpiC	choroid plexus:	n/a
48	chr5:111755053-111755103	HL-60	blood:	n/a
49	chr5:111755041-111755091	AoSMC	blood vessel:	n/a
50	chr5:111755067-111755117	MCF10A-Er-Src	breast:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:111496976..111498708-chr5:111754134..111756098,2	MCF-7	breast:
2	chr5:111495302..111497808-chr5:111754204..111756858,3	MCF-7	breast:

Variant related genes	Relation type
EPB41L4A	TF binding region
EPB41L4A-AS2	TF binding region
EPB41L4A-AS2	CpG island
EPB41L4A	CpG island
ENSG00000238363	Chromatin interaction
ENSG00000224032	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv531291	chr5:111497440-111756788	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv882714	chr5:111655382-111807579	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv3324210	chr5:111754678-111757226	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111752800-111755200	Active TSS	Psoas Muscle	Psoas
2	chr5:111752800-111756200	Active TSS	Right Atrium	heart
3	chr5:111752800-111756400	Active TSS	Aorta	Aorta
4	chr5:111753000-111756400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:111753000-111756600	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr5:111753200-111756400	Active TSS	Fetal Heart	heart
7	chr5:111753400-111756000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
8	chr5:111753400-111756000	Active TSS	Placenta	Placenta
9	chr5:111753400-111756000	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr5:111753400-111756200	Active TSS	Brain Cingulate Gyrus	brain
11	chr5:111753400-111756200	Active TSS	Brain Substantia Nigra	brain
12	chr5:111753400-111756200	Active TSS	Fetal Kidney	kidney
13	chr5:111753400-111756200	Active TSS	NHDF-Ad	bronchial
14	chr5:111753400-111756400	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr5:111753400-111756400	Active TSS	Ovary	ovary
16	chr5:111753400-111756400	Active TSS	Right Ventricle	heart
17	chr5:111753400-111756600	Active TSS	Brain Angular Gyrus	brain
18	chr5:111753600-111755200	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
19	chr5:111753600-111755200	Active TSS	Colonic Mucosa	Colon
20	chr5:111753600-111755800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr5:111753600-111755800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr5:111753600-111756000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
23	chr5:111753600-111756200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:111753600-111756200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
25	chr5:111753600-111756200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
26	chr5:111753600-111756200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
27	chr5:111753600-111756200	Active TSS	Colon Smooth Muscle	Colon
28	chr5:111753600-111756200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
29	chr5:111753600-111756200	Active TSS	Gastric	stomach
30	chr5:111753600-111756200	Active TSS	Lung	lung
31	chr5:111753600-111756200	Active TSS	Rectal Mucosa Donor 31	rectum
32	chr5:111753600-111756200	Active TSS	Rectal Smooth Muscle	rectum
33	chr5:111753600-111756200	Bivalent/Poised TSS	Thymus	Thymus
34	chr5:111753600-111756200	Active TSS	Hela-S3	cervix
35	chr5:111753600-111756400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
36	chr5:111753600-111756400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr5:111753600-111756400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr5:111753600-111756400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr5:111753600-111756400	Active TSS	Esophagus	oesophagus
40	chr5:111753600-111756400	Active TSS	Left Ventricle	heart
41	chr5:111753600-111756400	Bivalent/Poised TSS	A549	lung
42	chr5:111753600-111756400	Bivalent/Poised TSS	HSMM	muscle
43	chr5:111753600-111756600	Active TSS	Brain Anterior Caudate	brain
44	chr5:111753800-111755200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr5:111753800-111755400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr5:111753800-111755400	Active TSS	Sigmoid Colon	Sigmoid Colon
47	chr5:111753800-111756000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
48	chr5:111753800-111756200	Active TSS	Placenta Amnion	Placenta Amnion
49	chr5:111753800-111756200	Flanking Bivalent TSS/Enh	HMEC	breast
50	chr5:111753800-111756200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood

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