Variant report

Variant	rs547888796
Chromosome Location	chr18:43913819-43913820
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	MAX	chr18:43912986-43914086	Hela-S3	cervix:	n/a	chr18:43913176-43913186
2	POLR2A	chr18:43913285-43914095	Hela-S3	cervix:	n/a	n/a
3	CHD2	chr18:43913251-43914211	Hela-S3	cervix:	n/a	chr18:43913992-43913999 chr18:43914023-43914030
4	MAZ	chr18:43913074-43914122	Hela-S3	cervix:	n/a	n/a
5	TCF7L2	chr18:43912918-43914059	Hela-S3	cervix:	n/a	chr18:43914026-43914033
6	POLR2A	chr18:43912857-43916158	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr18:43913567-43914113	PFSK-1	brain:	n/a	n/a
8	POLR2A	chr18:43913268-43914379	ECC-1	luminal epithelium:	n/a	n/a
9	POLR2A	chr18:43913366-43914297	SK-N-MC	brain:	n/a	n/a
10	POLR2A	chr18:43913016-43915273	HL-60	blood:	n/a	n/a
11	POLR2A	chr18:43913557-43914095	HCT-116	colon:	n/a	n/a
12	MYC	chr18:43913343-43915176	Hela-S3	cervix:	n/a	chr18:43914848-43914858 chr18:43914455-43914465
13	MYC	chr18:43913013-43913848	MCF-7	breast:	n/a	chr18:43913176-43913186
14	ZKSCAN1	chr18:43913413-43913982	Hela-S3	cervix:	n/a	n/a
15	TEAD4	chr18:43912821-43914131	ECC-1	luminal epithelium:	n/a	n/a
16	SMARCB1	chr18:43912972-43914021	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr18:43913592-43913853	A549	lung:	n/a	n/a
18	SIN3A	chr18:43912974-43916082	H1-hESC	embryonic stem cell:	n/a	n/a
19	NFYA	chr18:43913814-43914027	Hela-S3	cervix:	n/a	chr18:43913976-43913990 chr18:43913975-43913990 chr18:43913978-43913988 chr18:43913975-43913990
20	POLR2A	chr18:43913488-43914045	A549	lung:	n/a	n/a
21	MAX	chr18:43912826-43914017	ECC-1	luminal epithelium:	n/a	chr18:43912943-43912952 chr18:43913176-43913186
22	POLR2A	chr18:43913334-43914103	Hela-S3	cervix:	n/a	n/a
23	MXI1	chr18:43913027-43913927	Hela-S3	cervix:	n/a	n/a
24	ZNF263	chr18:43913402-43913909	HEK293-T-REx	kidney:	n/a	n/a
25	MYC	chr18:43913800-43913953	NB4	blood:	n/a	n/a
26	CEBPB	chr18:43913479-43914028	Hela-S3	cervix:	n/a	n/a
27	MXI1	chr18:43912927-43913862	H1-hESC	embryonic stem cell:	n/a	chr18:43912999-43913014
28	POLR2A	chr18:43913394-43914173	ECC-1	luminal epithelium:	n/a	n/a
29	TCF7L2	chr18:43913412-43915031	HCT-116	colon:	n/a	chr18:43914026-43914033
30	MYC	chr18:43913288-43913833	MCF10A-Er-Src	breast:	n/a	n/a
31	TEAD4	chr18:43913191-43913913	ECC-1	luminal epithelium:	n/a	n/a
32	RCOR1	chr18:43913380-43914050	Hela-S3	cervix:	n/a	n/a
33	REST	chr18:43912734-43917838	H1-neurons	neurons:	n/a	chr18:43917397-43917404
34	TAF1	chr18:43913360-43914167	ECC-1	luminal epithelium:	n/a	n/a
35	POLR2A	chr18:43913381-43914337	H1-hESC	embryonic stem cell:	n/a	n/a
36	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
37	MXI1	chr18:43912774-43920041	SK-N-SH	brain:	n/a	chr18:43912999-43913014
38	POLR2A	chr18:43913782-43913961	MCF10A-Er-Src	breast:	n/a	n/a
39	MAX	chr18:43912884-43913952	MCF-7	breast:	n/a	chr18:43912943-43912952 chr18:43913176-43913186
40	BACH1	chr18:43912950-43914058	H1-hESC	embryonic stem cell:	n/a	n/a
41	NFYB	chr18:43913816-43914062	Hela-S3	cervix:	n/a	chr18:43913976-43913990 chr18:43913975-43913990 chr18:43913978-43913988 chr18:43913975-43913990 chr18:43913977-43913992
42	POLR2A	chr18:43912869-43916214	Hela-S3	cervix:	n/a	n/a
43	MAFK	chr18:43913358-43913825	Hela-S3	cervix:	n/a	n/a
44	MAX	chr18:43912875-43914133	H1-hESC	embryonic stem cell:	n/a	chr18:43912943-43912952 chr18:43913176-43913186
45	MAX	chr18:43912842-43914127	H1-hESC	embryonic stem cell:	n/a	chr18:43912943-43912952 chr18:43913176-43913186
46	REST	chr18:43913184-43913962	H1-neurons	neurons:	n/a	n/a
47	MAX	chr18:43913351-43913855	SK-N-SH	brain:	n/a	n/a
48	CTCF	chr18:43913720-43913870	SAEC	small airway:	n/a	n/a
49	SMC3	chr18:43913113-43914015	Hela-S3	cervix:	n/a	chr18:43913146-43913156
50	GTF2F1	chr18:43913117-43914067	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	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: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 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
5	nsv828224	chr18:43913680-43915863	Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv18303	chr18:43913705-43914290	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv1796458	chr18:43913732-43923851	Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv576811	chr18:43913732-43930972	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv3337984	chr18:43913754-43914852	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43912800-43915000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr18:43912800-43915800	Active TSS	Brain Cingulate Gyrus	brain
3	chr18:43913000-43914000	Flanking Active TSS	Stomach Smooth Muscle	stomach
4	chr18:43913000-43914800	Active TSS	Brain Hippocampus Middle	brain
5	chr18:43913000-43916000	Active TSS	Brain Angular Gyrus	brain
6	chr18:43913000-43918000	Active TSS	Fetal Brain Female	brain
7	chr18:43913200-43914000	Enhancers	Primary B cells from peripheral blood	blood
8	chr18:43913200-43914000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr18:43913200-43914000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr18:43913200-43914000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
11	chr18:43913200-43914400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr18:43913200-43914800	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr18:43913200-43915400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr18:43913200-43915400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
15	chr18:43913200-43915800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
16	chr18:43913400-43914000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr18:43913400-43914000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr18:43913400-43914000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr18:43913400-43914000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr18:43913400-43914000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr18:43913400-43914000	Flanking Active TSS	Esophagus	oesophagus
22	chr18:43913400-43914000	Flanking Active TSS	Gastric	stomach
23	chr18:43913400-43914000	Flanking Active TSS	Pancreas	Pancrea
24	chr18:43913400-43914200	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr18:43913400-43914400	Bivalent/Poised TSS	HepG2	liver
26	chr18:43913400-43914600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr18:43913400-43914600	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
28	chr18:43913400-43914800	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
29	chr18:43913400-43915000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr18:43913400-43915000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr18:43913400-43915800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
32	chr18:43913400-43915800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
33	chr18:43913400-43915800	Active TSS	Colon Smooth Muscle	Colon
34	chr18:43913400-43916000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr18:43913600-43914000	Flanking Active TSS	Primary B cells from cord blood	blood
36	chr18:43913600-43914000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr18:43913600-43914000	Bivalent/Poised TSS	HSMM	muscle
38	chr18:43913600-43914600	Active TSS	Aorta	Aorta
39	chr18:43913600-43914600	Bivalent/Poised TSS	Colonic Mucosa	Colon
40	chr18:43913600-43914600	Active TSS	Fetal Heart	heart
41	chr18:43913600-43914600	Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr18:43913600-43914800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr18:43913600-43914800	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr18:43913600-43914800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr18:43913600-43914800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr18:43913600-43914800	Active TSS	Brain Substantia Nigra	brain
47	chr18:43913600-43914800	Active TSS	A549	lung
48	chr18:43913600-43915000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
49	chr18:43913600-43915000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
50	chr18:43913600-43915200	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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