Variant report

Variant	rs547850283
Chromosome Location	chr18:43913087-43913088
allele	A/T
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	USF1	chr18:43912915-43913223	SK-N-SH_RA	brain:	n/a	n/a
2	MAX	chr18:43912986-43914086	Hela-S3	cervix:	n/a	chr18:43913176-43913186
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	USF1	chr18:43912802-43913190	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr18:43912857-43916158	Hela-S3	cervix:	n/a	n/a
7	USF2	chr18:43912300-43913598	Hela-S3	cervix:	n/a	chr18:43913076-43913087
8	POLR2A	chr18:43913016-43915273	HL-60	blood:	n/a	n/a
9	MYC	chr18:43913013-43913848	MCF-7	breast:	n/a	chr18:43913176-43913186
10	MYC	chr18:43913035-43913172	MCF-7	breast:	n/a	n/a
11	TEAD4	chr18:43912821-43914131	ECC-1	luminal epithelium:	n/a	n/a
12	SMARCB1	chr18:43912972-43914021	Hela-S3	cervix:	n/a	n/a
13	MXI1	chr18:43913005-43913179	GM12878	blood:	n/a	n/a
14	SIN3A	chr18:43912974-43916082	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAX	chr18:43912826-43914017	ECC-1	luminal epithelium:	n/a	chr18:43912943-43912952 chr18:43913176-43913186
16	KAP1	chr18:43912996-43913731	HEK293	kidney:	n/a	n/a
17	MXI1	chr18:43913027-43913927	Hela-S3	cervix:	n/a	n/a
18	USF1	chr18:43912821-43913374	ECC-1	luminal epithelium:	n/a	n/a
19	MXI1	chr18:43912927-43913862	H1-hESC	embryonic stem cell:	n/a	chr18:43912999-43913014
20	MAX	chr18:43912978-43913739	H1-hESC	embryonic stem cell:	n/a	chr18:43913176-43913186
21	CTCF	chr18:43913083-43913130	MCF-7	breast:	n/a	n/a
22	USF1	chr18:43912837-43913792	ECC-1	luminal epithelium:	n/a	n/a
23	REST	chr18:43912734-43917838	H1-neurons	neurons:	n/a	chr18:43917397-43917404
24	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
25	MXI1	chr18:43912774-43920041	SK-N-SH	brain:	n/a	chr18:43912999-43913014
26	MAX	chr18:43912884-43913952	MCF-7	breast:	n/a	chr18:43912943-43912952 chr18:43913176-43913186
27	BACH1	chr18:43912950-43914058	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr18:43913000-43913150	WERI-Rb-1	eye:	n/a	n/a
29	POLR2A	chr18:43912869-43916214	Hela-S3	cervix:	n/a	n/a
30	MAX	chr18:43912875-43914133	H1-hESC	embryonic stem cell:	n/a	chr18:43912943-43912952 chr18:43913176-43913186
31	MAX	chr18:43912842-43914127	H1-hESC	embryonic stem cell:	n/a	chr18:43912943-43912952 chr18:43913176-43913186
32	MAX	chr18:43912966-43913257	K562	blood:	n/a	chr18:43913176-43913186
33	USF1	chr18:43912895-43913162	H1-hESC	embryonic stem cell:	n/a	n/a
34	MYC	chr18:43913032-43913198	MCF-7	breast:	n/a	chr18:43913176-43913186
35	USF2	chr18:43912909-43913143	H1-hESC	embryonic stem cell:	n/a	chr18:43913076-43913087
36	MAX	chr18:43912812-43914433	ECC-1	luminal epithelium:	n/a	chr18:43912943-43912952 chr18:43913176-43913186
37	CTCF	chr18:43913064-43913123	MCF-7	breast:	n/a	n/a
38	POLR2A	chr18:43912990-43915223	HL-60	blood:	n/a	n/a
39	MAX	chr18:43913071-43914131	HCT-116	colon:	n/a	chr18:43913176-43913186
40	USF2	chr18:43913052-43913133	GM12878	blood:	n/a	chr18:43913076-43913087
41	MAX	chr18:43912856-43914148	HCT-116	colon:	n/a	chr18:43912943-43912952 chr18:43913176-43913186
42	MYC	chr18:43913022-43913891	MCF-7	breast:	n/a	chr18:43913176-43913186
43	POLR2A	chr18:43912836-43916230	H1-neurons	neurons:	n/a	n/a
44	MAX	chr18:43912992-43913258	NB4	blood:	n/a	chr18:43913176-43913186
45	POLR2A	chr18:43912781-43916173	H1-neurons	neurons:	n/a	n/a

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

Variant related genes	Relation type
RNF165	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	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:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43912200-43913200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr18:43912400-43913200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr18:43912400-43913400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr18:43912400-43913400	Enhancers	Right Ventricle	heart
5	chr18:43912600-43913200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
6	chr18:43912600-43913200	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
7	chr18:43912600-43913200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr18:43912600-43913400	Enhancers	Placenta Amnion	Placenta Amnion
9	chr18:43912600-43913800	Flanking Active TSS	Liver	Liver
10	chr18:43912800-43913200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
11	chr18:43912800-43913200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr18:43912800-43913200	Bivalent Enhancer	Fetal Lung	lung
13	chr18:43912800-43913200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr18:43912800-43913200	Bivalent Enhancer	Fetal Muscle Leg	muscle
15	chr18:43912800-43913400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr18:43912800-43913400	Enhancers	Left Ventricle	heart
17	chr18:43912800-43913400	Enhancers	Pancreas	Pancrea
18	chr18:43912800-43913400	Enhancers	Right Atrium	heart
19	chr18:43912800-43913600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr18:43912800-43913600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr18:43912800-43913600	Flanking Active TSS	Hela-S3	cervix
22	chr18:43912800-43913800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
23	chr18:43912800-43913800	Flanking Active TSS	Dnd41	blood
24	chr18:43912800-43915000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr18:43912800-43915800	Active TSS	Brain Cingulate Gyrus	brain
26	chr18:43913000-43913200	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr18:43913000-43913200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr18:43913000-43913200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
29	chr18:43913000-43913200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
30	chr18:43913000-43913200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
31	chr18:43913000-43913200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr18:43913000-43913200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr18:43913000-43913200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
34	chr18:43913000-43913200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr18:43913000-43913200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr18:43913000-43913200	Enhancers	Adipose Nuclei	Adipose
37	chr18:43913000-43913200	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr18:43913000-43913200	Flanking Active TSS	Brain Substantia Nigra	brain
39	chr18:43913000-43913200	Enhancers	Colon Smooth Muscle	Colon
40	chr18:43913000-43913200	Flanking Active TSS	Esophagus	oesophagus
41	chr18:43913000-43913200	Bivalent Enhancer	Fetal Stomach	stomach
42	chr18:43913000-43913200	Bivalent Enhancer	Fetal Thymus	thymus
43	chr18:43913000-43913200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr18:43913000-43913200	Enhancers	Spleen	Spleen
45	chr18:43913000-43913200	Bivalent Enhancer	HMEC	breast
46	chr18:43913000-43913400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr18:43913000-43913400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr18:43913000-43913400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
49	chr18:43913000-43913400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr18:43913000-43913400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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