Variant report

Variant	rs538072889
Chromosome Location	chr18:28680651-28680652
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	POLR2A	chr18:28679636-28682676	K562	blood:	n/a	n/a
2	SRF	chr18:28680507-28681300	HCT-116	colon:	n/a	chr18:28680943-28680960 chr18:28680941-28680956 chr18:28680944-28680955 chr18:28680943-28680954 chr18:28680944-28680958 chr18:28680942-28680955 chr18:28680944-28680953 chr18:28680940-28680954 chr18:28680940-28680958 chr18:28680938-28680956
3	CHD2	chr18:28680604-28682111	K562	blood:	n/a	n/a
4	POLR2A	chr18:28680526-28682609	MCF10A-Er-Src	breast:	n/a	n/a
5	MYC	chr18:28680517-28680716	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr18:28679933-28682875	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr18:28680643-28682543	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr18:28680220-28682702	K562	blood:	n/a	n/a
9	TBP	chr18:28680567-28682783	K562	blood:	n/a	n/a
10	SIN3A	chr18:28680576-28682705	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr18:28680595-28682653	K562	blood:	n/a	n/a
12	MYC	chr18:28680523-28680723	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr18:28679911-28682852	HepG2	liver:	n/a	n/a
14	MYC	chr18:28680550-28682596	K562	blood:	n/a	chr18:28682136-28682146
15	POLR2A	chr18:28680300-28683139	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr18:28680512-28682668	K562	blood:	n/a	n/a
17	SRF	chr18:28680607-28681276	HCT-116	colon:	n/a	chr18:28680943-28680960 chr18:28680941-28680956 chr18:28680944-28680955 chr18:28680943-28680954 chr18:28680944-28680958 chr18:28680942-28680955 chr18:28680944-28680953 chr18:28680940-28680954 chr18:28680940-28680958 chr18:28680938-28680956
18	REST	chr18:28680627-28680956	K562	blood:	n/a	n/a
19	ZNF263	chr18:28680577-28681207	HEK293-T-REx	kidney:	n/a	n/a
20	EBF1	chr18:28680515-28681265	GM12878	blood:	n/a	chr18:28681081-28681092
21	MAZ	chr18:28680446-28682658	K562	blood:	n/a	chr18:28682136-28682146
22	POLR2A	chr18:28680002-28683936	K562	blood:	n/a	n/a
23	EP300	chr18:28680491-28681465	K562	blood:	n/a	chr18:28680635-28680649 chr18:28681266-28681276 chr18:28681041-28681057
24	POLR2A	chr18:28680572-28682591	K562	blood:	n/a	n/a
25	POLR2A	chr18:28680527-28682665	K562	blood:	n/a	n/a
26	TAF1	chr18:28680625-28682663	H1-hESC	embryonic stem cell:	n/a	n/a
27	ELF1	chr18:28680527-28680921	K562	blood:	n/a	chr18:28680645-28680656 chr18:28680703-28680714 chr18:28680796-28680807
28	RCOR1	chr18:28680600-28682662	K562	blood:	n/a	n/a
29	REST	chr18:28679865-28682873	H1-neurons	neurons:	n/a	chr18:28682133-28682146
30	POLR2A	chr18:28680252-28682692	K562	blood:	n/a	n/a
31	JUND	chr18:28680543-28683681	K562	blood:	n/a	chr18:28683112-28683120 chr18:28683113-28683124 chr18:28683498-28683506 chr18:28683110-28683122 chr18:28683498-28683506 chr18:28683497-28683507 chr18:28683499-28683506 chr18:28683494-28683505 chr18:28681049-28681058 chr18:28683605-28683614

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:28678241..28681068-chr18:28692831..28695270,2	K562	blood:
2	chr18:28663717..28665312-chr18:28679601..28681471,2	K562	blood:

Variant related genes	Relation type
ENSG00000265888	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388313	chr18:28583296-28693160	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv530788	chr18:28596461-28751891	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv3384119	chr18:28679654-28682652	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28649200-28680800	Weak transcription	Gastric	stomach
2	chr18:28678800-28682400	Active TSS	Duodenum Mucosa	Duodenum
3	chr18:28679200-28682800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr18:28679800-28680800	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr18:28679800-28680800	Bivalent/Poised TSS	Fetal Brain Male	brain
6	chr18:28679800-28681000	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr18:28679800-28681200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr18:28679800-28682400	Active TSS	Esophagus	oesophagus
9	chr18:28679800-28682800	Active TSS	Rectal Smooth Muscle	rectum
10	chr18:28680000-28680800	Bivalent/Poised TSS	Primary B cells from cord blood	blood
11	chr18:28680000-28680800	Active TSS	Brain Hippocampus Middle	brain
12	chr18:28680000-28682600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr18:28680000-28682600	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr18:28680000-28682800	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr18:28680000-28682800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr18:28680200-28680800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr18:28680200-28680800	Weak transcription	Lung	lung
18	chr18:28680200-28681000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr18:28680200-28681200	Active TSS	Right Atrium	heart
20	chr18:28680200-28682000	Bivalent/Poised TSS	Fetal Stomach	stomach
21	chr18:28680200-28682400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr18:28680200-28682400	Active TSS	Rectal Mucosa Donor 31	rectum
23	chr18:28680200-28682600	Active TSS	Colon Smooth Muscle	Colon
24	chr18:28680200-28682600	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr18:28680200-28682600	Active TSS	Placenta Amnion	Placenta Amnion
26	chr18:28680200-28682800	Active TSS	H1 Cell Line	embryonic stem cell
27	chr18:28680200-28682800	Active TSS	H9 Cell Line	embryonic stem cell
28	chr18:28680200-28682800	Active TSS	Colonic Mucosa	Colon
29	chr18:28680200-28683000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr18:28680400-28680800	Bivalent Enhancer	Brain Germinal Matrix	brain
31	chr18:28680400-28680800	Active TSS	Fetal Intestine Small	intestine
32	chr18:28680400-28681200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr18:28680400-28682000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr18:28680400-28682200	Active TSS	Placenta	Placenta
35	chr18:28680400-28682400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr18:28680400-28682400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr18:28680400-28682400	Bivalent/Poised TSS	Fetal Thymus	thymus
38	chr18:28680400-28682400	Active TSS	Pancreas	Pancrea
39	chr18:28680400-28682400	Active TSS	Sigmoid Colon	Sigmoid Colon
40	chr18:28680400-28682400	Active TSS	Stomach Mucosa	stomach
41	chr18:28680400-28682600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr18:28680400-28682600	Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr18:28680400-28682600	Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr18:28680400-28682600	Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr18:28680400-28682600	Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr18:28680400-28682600	Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr18:28680400-28682600	Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr18:28680400-28682600	Active TSS	Brain Anterior Caudate	brain
49	chr18:28680400-28682600	Active TSS	Right Ventricle	heart
50	chr18:28680400-28682800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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