Variant report

Variant	rs537225053
Chromosome Location	chr18:43913255-43913256
allele	C/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	MAX	chr18:43912986-43914086	Hela-S3	cervix:	n/a	chr18:43913176-43913186
2	CHD2	chr18:43913251-43914211	Hela-S3	cervix:	n/a	chr18:43913992-43913999 chr18:43914023-43914030
3	MAZ	chr18:43913074-43914122	Hela-S3	cervix:	n/a	n/a
4	TCF7L2	chr18:43912918-43914059	Hela-S3	cervix:	n/a	chr18:43914026-43914033
5	POLR2A	chr18:43912857-43916158	Hela-S3	cervix:	n/a	n/a
6	USF2	chr18:43912300-43913598	Hela-S3	cervix:	n/a	chr18:43913076-43913087
7	POLR2A	chr18:43913016-43915273	HL-60	blood:	n/a	n/a
8	MYC	chr18:43913013-43913848	MCF-7	breast:	n/a	chr18:43913176-43913186
9	TEAD4	chr18:43912821-43914131	ECC-1	luminal epithelium:	n/a	n/a
10	SMARCB1	chr18:43912972-43914021	Hela-S3	cervix:	n/a	n/a
11	SIN3A	chr18:43912974-43916082	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAX	chr18:43912826-43914017	ECC-1	luminal epithelium:	n/a	chr18:43912943-43912952 chr18:43913176-43913186
13	KAP1	chr18:43912996-43913731	HEK293	kidney:	n/a	n/a
14	MXI1	chr18:43913027-43913927	Hela-S3	cervix:	n/a	n/a
15	USF1	chr18:43912821-43913374	ECC-1	luminal epithelium:	n/a	n/a
16	MXI1	chr18:43912927-43913862	H1-hESC	embryonic stem cell:	n/a	chr18:43912999-43913014
17	MYC	chr18:43913165-43913741	MCF10A-Er-Src	breast:	n/a	chr18:43913176-43913186
18	MAX	chr18:43912978-43913739	H1-hESC	embryonic stem cell:	n/a	chr18:43913176-43913186
19	USF1	chr18:43912837-43913792	ECC-1	luminal epithelium:	n/a	n/a
20	TEAD4	chr18:43913191-43913913	ECC-1	luminal epithelium:	n/a	n/a
21	REST	chr18:43912734-43917838	H1-neurons	neurons:	n/a	chr18:43917397-43917404
22	HA-E2F1	chr18:43912907-43914083	MCF-7	breast:	n/a	chr18:43913835-43913846 chr18:43913992-43913999 chr18:43913861-43913870 chr18:43913760-43913774 chr18:43913987-43914001 chr18:43914023-43914030
23	MXI1	chr18:43912774-43920041	SK-N-SH	brain:	n/a	chr18:43912999-43913014
24	MAX	chr18:43912884-43913952	MCF-7	breast:	n/a	chr18:43912943-43912952 chr18:43913176-43913186
25	BACH1	chr18:43912950-43914058	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr18:43912869-43916214	Hela-S3	cervix:	n/a	n/a
27	MAX	chr18:43912875-43914133	H1-hESC	embryonic stem cell:	n/a	chr18:43912943-43912952 chr18:43913176-43913186
28	MAX	chr18:43912842-43914127	H1-hESC	embryonic stem cell:	n/a	chr18:43912943-43912952 chr18:43913176-43913186
29	REST	chr18:43913184-43913962	H1-neurons	neurons:	n/a	n/a
30	MAX	chr18:43912966-43913257	K562	blood:	n/a	chr18:43913176-43913186
31	MYC	chr18:43913178-43913509	H1-hESC	embryonic stem cell:	n/a	n/a
32	SMC3	chr18:43913113-43914015	Hela-S3	cervix:	n/a	chr18:43913146-43913156
33	GTF2F1	chr18:43913117-43914067	Hela-S3	cervix:	n/a	n/a
34	MAX	chr18:43912812-43914433	ECC-1	luminal epithelium:	n/a	chr18:43912943-43912952 chr18:43913176-43913186
35	POLR2A	chr18:43912990-43915223	HL-60	blood:	n/a	n/a
36	MAX	chr18:43913071-43914131	HCT-116	colon:	n/a	chr18:43913176-43913186
37	MAX	chr18:43912856-43914148	HCT-116	colon:	n/a	chr18:43912943-43912952 chr18:43913176-43913186
38	MYC	chr18:43913022-43913891	MCF-7	breast:	n/a	chr18:43913176-43913186
39	POLR2A	chr18:43912836-43916230	H1-neurons	neurons:	n/a	n/a
40	MAX	chr18:43912992-43913258	NB4	blood:	n/a	chr18:43913176-43913186
41	TBP	chr18:43913225-43914009	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr18:43912781-43916173	H1-neurons	neurons:	n/a	n/a
43	REST	chr18:43913124-43914150	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:43912035..43913739-chr18:43924023..43926965,2	MCF-7	breast:
2	chr18:43751486..43754394-chr18:43913234..43915228,2	MCF-7	breast:

Variant related genes	Relation type
RNF165	TF binding region
ENSG00000152242	Chromatin interaction

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	esv1819321	chr18:43909994-43930972	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv1822108	chr18:43909994-43930972	Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv1821757	chr18:43910908-43914085	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv3442459	chr18:43912979-43915827	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43912400-43913400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr18:43912400-43913400	Enhancers	Right Ventricle	heart
3	chr18:43912600-43913400	Enhancers	Placenta Amnion	Placenta Amnion
4	chr18:43912600-43913800	Flanking Active TSS	Liver	Liver
5	chr18:43912800-43913400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr18:43912800-43913400	Enhancers	Left Ventricle	heart
7	chr18:43912800-43913400	Enhancers	Pancreas	Pancrea
8	chr18:43912800-43913400	Enhancers	Right Atrium	heart
9	chr18:43912800-43913600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr18:43912800-43913600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr18:43912800-43913600	Flanking Active TSS	Hela-S3	cervix
12	chr18:43912800-43913800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
13	chr18:43912800-43913800	Flanking Active TSS	Dnd41	blood
14	chr18:43912800-43915000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr18:43912800-43915800	Active TSS	Brain Cingulate Gyrus	brain
16	chr18:43913000-43913400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr18:43913000-43913400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr18:43913000-43913400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
19	chr18:43913000-43913400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr18:43913000-43913400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr18:43913000-43913400	Enhancers	Gastric	stomach
22	chr18:43913000-43913400	Enhancers	NHEK	skin
23	chr18:43913000-43913600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
24	chr18:43913000-43913600	Flanking Active TSS	Fetal Heart	heart
25	chr18:43913000-43913600	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
26	chr18:43913000-43913600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
27	chr18:43913000-43913800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr18:43913000-43913800	Flanking Active TSS	Brain Anterior Caudate	brain
29	chr18:43913000-43913800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
30	chr18:43913000-43913800	Flanking Active TSS	Fetal Brain Male	brain
31	chr18:43913000-43913800	Bivalent Enhancer	Placenta	Placenta
32	chr18:43913000-43914000	Flanking Active TSS	Stomach Smooth Muscle	stomach
33	chr18:43913000-43914800	Active TSS	Brain Hippocampus Middle	brain
34	chr18:43913000-43916000	Active TSS	Brain Angular Gyrus	brain
35	chr18:43913000-43918000	Active TSS	Fetal Brain Female	brain
36	chr18:43913200-43913400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr18:43913200-43913400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr18:43913200-43913400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
39	chr18:43913200-43913400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
40	chr18:43913200-43913400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr18:43913200-43913400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
42	chr18:43913200-43913400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr18:43913200-43913400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
44	chr18:43913200-43913400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr18:43913200-43913400	Enhancers	Brain Substantia Nigra	brain
46	chr18:43913200-43913400	Flanking Active TSS	Colon Smooth Muscle	Colon
47	chr18:43913200-43913400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
48	chr18:43913200-43913400	Active TSS	Esophagus	oesophagus
49	chr18:43913200-43913400	Bivalent Enhancer	Fetal Intestine Large	intestine
50	chr18:43913200-43913400	Flanking Bivalent TSS/Enh	Fetal Lung	lung

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