Variant report

Variant	rs539041515
Chromosome Location	chr18:43912991-43912992
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	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	TCF7L2	chr18:43912918-43914059	Hela-S3	cervix:	n/a	chr18:43914026-43914033
4	USF1	chr18:43912802-43913190	H1-hESC	embryonic stem cell:	n/a	n/a
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	TEAD4	chr18:43912821-43914131	ECC-1	luminal epithelium:	n/a	n/a
8	SMARCB1	chr18:43912972-43914021	Hela-S3	cervix:	n/a	n/a
9	SIN3A	chr18:43912974-43916082	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAX	chr18:43912826-43914017	ECC-1	luminal epithelium:	n/a	chr18:43912943-43912952 chr18:43913176-43913186
11	USF1	chr18:43912821-43913374	ECC-1	luminal epithelium:	n/a	n/a
12	MXI1	chr18:43912927-43913862	H1-hESC	embryonic stem cell:	n/a	chr18:43912999-43913014
13	MAX	chr18:43912978-43913739	H1-hESC	embryonic stem cell:	n/a	chr18:43913176-43913186
14	USF1	chr18:43912837-43913792	ECC-1	luminal epithelium:	n/a	n/a
15	REST	chr18:43912734-43917838	H1-neurons	neurons:	n/a	chr18:43917397-43917404
16	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
17	MXI1	chr18:43912774-43920041	SK-N-SH	brain:	n/a	chr18:43912999-43913014
18	MAX	chr18:43912884-43913952	MCF-7	breast:	n/a	chr18:43912943-43912952 chr18:43913176-43913186
19	BACH1	chr18:43912950-43914058	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr18:43912869-43916214	Hela-S3	cervix:	n/a	n/a
21	MAX	chr18:43912875-43914133	H1-hESC	embryonic stem cell:	n/a	chr18:43912943-43912952 chr18:43913176-43913186
22	MAX	chr18:43912842-43914127	H1-hESC	embryonic stem cell:	n/a	chr18:43912943-43912952 chr18:43913176-43913186
23	MAX	chr18:43912966-43913257	K562	blood:	n/a	chr18:43913176-43913186
24	USF1	chr18:43912895-43913162	H1-hESC	embryonic stem cell:	n/a	n/a
25	USF2	chr18:43912909-43913143	H1-hESC	embryonic stem cell:	n/a	chr18:43913076-43913087
26	MAX	chr18:43912812-43914433	ECC-1	luminal epithelium:	n/a	chr18:43912943-43912952 chr18:43913176-43913186
27	POLR2A	chr18:43912990-43915223	HL-60	blood:	n/a	n/a
28	MAX	chr18:43912856-43914148	HCT-116	colon:	n/a	chr18:43912943-43912952 chr18:43913176-43913186
29	POLR2A	chr18:43912836-43916230	H1-neurons	neurons:	n/a	n/a
30	POLR2A	chr18:43912781-43916173	H1-neurons	neurons:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:43912991-43913041	AG09319	gingival:	n/a
2	chr18:43912991-43913041	HEEpiC	esophagus:	n/a
3	chr18:43912991-43913041	NB4	blood:	n/a
4	chr18:43912991-43913041	AG10803	skin:	n/a
5	chr18:43912991-43913041	MCF-7	breast:	n/a
6	chr18:43912991-43913041	HRE	kidney:	n/a
7	chr18:43912991-43913041	Jurkat	blood:	n/a
8	chr18:43912991-43913041	HMEC	breast:	n/a
9	chr18:43912991-43913041	HepG2	liver:	n/a
10	chr18:43912991-43913041	NHBE	bronchial:	n/a
11	chr18:43912991-43913041	HRPEpiC	eye:	n/a
12	chr18:43912991-43913041	PrEC	prostate:	n/a
13	chr18:43912991-43913041	U87	brain:	n/a
14	chr18:43912991-43913041	NH-A	brain:	n/a
15	chr18:43912991-43913041	Hela-S3	cervix:	n/a
16	chr18:43912991-43913041	Caco-2	colon:	n/a
17	chr18:43912991-43913041	AoSMC	blood vessel:	n/a
18	chr18:43912991-43913041	K562	blood:	n/a
19	chr18:43912991-43913041	MCF10A-Er-Src	breast:	n/a
20	chr18:43912991-43913041	NT2-D1	testis:	n/a
21	chr18:43912991-43913041	GM12878	blood:	n/a
22	chr18:43912991-43913041	SK-N-SH_RA	brain:	n/a
23	chr18:43912991-43913041	HCT-116	colon:	n/a
24	chr18:43912991-43913041	HAEpiC	amniotic membrane:	n/a
25	chr18:43912991-43913041	H1-hESC	embryonic stem cell:	embryo
26	chr18:43912991-43913041	IMR90	lung:	fetal
27	chr18:43912991-43913041	AG09309	skin:	n/a
28	chr18:43912991-43913041	HEK293	kidney:	embryo
29	chr18:43912991-43913041	Hepatocyte	liver:	n/a
30	chr18:43912991-43913041	ovcar-3	ovarian:	n/a
31	chr18:43912991-43913041	PFSK-1	brain:	n/a
32	chr18:43912991-43913041	HIPEpiC	eye:	n/a
33	chr18:43912991-43913041	PANC-1	pancreas:	n/a
34	chr18:43912991-43913041	CMK	blood:	n/a
35	chr18:43912991-43913041	ECC-1	luminal epithelium:	n/a
36	chr18:43912991-43913041	GM12892	blood:	n/a
37	chr18:43912991-43913041	SK-N-MC	brain:	n/a
38	chr18:43912991-43913041	LNCaP	prostate:	n/a
39	chr18:43912991-43913041	SAEC	small airway:	n/a
40	chr18:43912991-43913041	HCPEpiC	choroid plexus:	n/a
41	chr18:43912991-43913041	SKMC	muscle:	n/a
42	chr18:43912991-43913041	GM06990	blood:	n/a
43	chr18:43912991-43913041	HL-60	blood:	n/a
44	chr18:43912991-43913041	HCM	heart:	n/a
45	chr18:43912991-43913041	RPTEC	kidney:	n/a
46	chr18:43912991-43913041	NHDF-neo	bronchial:	n/a
47	chr18:43912991-43913041	HPAEpiC	pulmonary alveolar:	n/a
48	chr18:43912991-43913041	BJ	skin:	n/a
49	chr18:43912991-43913041	HNPCEpiC	eye:	n/a
50	chr18:43912991-43913041	T-47D	breast:	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
RNF165	CpG island

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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43912200-43913200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr18:43912400-43913000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr18:43912400-43913000	Enhancers	Fetal Brain Male	brain
4	chr18:43912400-43913000	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr18:43912400-43913200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr18:43912400-43913400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr18:43912400-43913400	Enhancers	Right Ventricle	heart
8	chr18:43912600-43913000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
9	chr18:43912600-43913200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
10	chr18:43912600-43913200	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
11	chr18:43912600-43913200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr18:43912600-43913400	Enhancers	Placenta Amnion	Placenta Amnion
13	chr18:43912600-43913800	Flanking Active TSS	Liver	Liver
14	chr18:43912800-43913000	Enhancers	Brain Anterior Caudate	brain
15	chr18:43912800-43913000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
16	chr18:43912800-43913000	Enhancers	Brain Substantia Nigra	brain
17	chr18:43912800-43913000	Enhancers	Esophagus	oesophagus
18	chr18:43912800-43913000	Flanking Active TSS	Fetal Brain Female	brain
19	chr18:43912800-43913000	Enhancers	Fetal Heart	heart
20	chr18:43912800-43913200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
21	chr18:43912800-43913200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr18:43912800-43913200	Bivalent Enhancer	Fetal Lung	lung
23	chr18:43912800-43913200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr18:43912800-43913200	Bivalent Enhancer	Fetal Muscle Leg	muscle
25	chr18:43912800-43913400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr18:43912800-43913400	Enhancers	Left Ventricle	heart
27	chr18:43912800-43913400	Enhancers	Pancreas	Pancrea
28	chr18:43912800-43913400	Enhancers	Right Atrium	heart
29	chr18:43912800-43913600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr18:43912800-43913600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr18:43912800-43913600	Flanking Active TSS	Hela-S3	cervix
32	chr18:43912800-43913800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
33	chr18:43912800-43913800	Flanking Active TSS	Dnd41	blood
34	chr18:43912800-43915000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr18:43912800-43915800	Active TSS	Brain Cingulate Gyrus	brain

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