Variant report

Variant	rs537931569
Chromosome Location	chr18:28681048-28681049
allele	-/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	UBTF	chr18:28680916-28682589	K562	blood:	n/a	n/a
2	NR2F2	chr18:28680753-28681384	K562	blood:	n/a	n/a
3	EP300	chr18:28681040-28681220	GM12878	blood:	n/a	chr18:28681041-28681057
4	POLR2A	chr18:28679636-28682676	K562	blood:	n/a	n/a
5	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
6	CHD2	chr18:28680604-28682111	K562	blood:	n/a	n/a
7	MAX	chr18:28680849-28682731	K562	blood:	n/a	chr18:28682136-28682146
8	GTF2B	chr18:28680720-28681360	K562	blood:	n/a	n/a
9	ZNF143	chr18:28680797-28682028	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr18:28680664-28682702	K562	blood:	n/a	n/a
11	POLR2A	chr18:28680526-28682609	MCF10A-Er-Src	breast:	n/a	n/a
12	SMARCB1	chr18:28680936-28682599	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr18:28680764-28682668	H1-hESC	embryonic stem cell:	n/a	n/a
14	TAF1	chr18:28680997-28682614	K562	blood:	n/a	n/a
15	STAT5A	chr18:28680949-28681499	K562	blood:	n/a	chr18:28681230-28681242 chr18:28681278-28681286
16	POLR2A	chr18:28680810-28682070	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr18:28679933-28682875	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD2	chr18:28680834-28681390	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr18:28680938-28682628	H1-neurons	neurons:	n/a	n/a
20	POLR2A	chr18:28680643-28682543	H1-hESC	embryonic stem cell:	n/a	n/a
21	BHLHE40	chr18:28680962-28681342	GM12878	blood:	n/a	n/a
22	POLR2A	chr18:28680220-28682702	K562	blood:	n/a	n/a
23	RUNX3	chr18:28680944-28681344	GM12878	blood:	n/a	n/a
24	POLR2A	chr18:28681017-28681692	HepG2	liver:	n/a	n/a
25	POLR2A	chr18:28680717-28683015	HepG2	liver:	n/a	n/a
26	TBP	chr18:28680875-28681324	HepG2	liver:	n/a	n/a
27	TBP	chr18:28680567-28682783	K562	blood:	n/a	n/a
28	SIN3A	chr18:28680576-28682705	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr18:28680780-28681927	HepG2	liver:	n/a	n/a
30	POLR2A	chr18:28680595-28682653	K562	blood:	n/a	n/a
31	SPI1	chr18:28681018-28681450	GM12878	blood:	n/a	chr18:28681245-28681258
32	ZBTB7A	chr18:28680836-28681459	ECC-1	luminal epithelium:	n/a	chr18:28681034-28681041
33	JUND	chr18:28680668-28681174	H1-hESC	embryonic stem cell:	n/a	chr18:28681049-28681058
34	ZNF143	chr18:28680806-28681739	K562	blood:	n/a	n/a
35	FOXA1	chr18:28681020-28681429	HepG2	liver:	n/a	n/a
36	HEY1	chr18:28680664-28682143	K562	blood:	n/a	chr18:28681993-28682008
37	POLR2A	chr18:28680797-28682705	HCT-116	colon:	n/a	n/a
38	FOXA1	chr18:28680943-28681578	HepG2	liver:	n/a	n/a
39	POLR2A	chr18:28681014-28682043	K562	blood:	n/a	n/a
40	SRF	chr18:28680710-28681169	H1-hESC	embryonic stem cell:	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
41	MYC	chr18:28680703-28682621	K562	blood:	n/a	chr18:28682136-28682146
42	MAX	chr18:28680867-28681608	H1-hESC	embryonic stem cell:	n/a	n/a
43	SPI1	chr18:28680943-28681632	HL-60	blood:	n/a	chr18:28681245-28681258
44	NANOG	chr18:28680801-28681072	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr18:28679911-28682852	HepG2	liver:	n/a	n/a
46	MYC	chr18:28680550-28682596	K562	blood:	n/a	chr18:28682136-28682146
47	E2F6	chr18:28680750-28682603	K562	blood:	n/a	chr18:28681769-28681776 chr18:28681768-28681777 chr18:28681769-28681776 chr18:28681768-28681780 chr18:28681769-28681776 chr18:28682332-28682341 chr18:28682129-28682136
48	SPI1	chr18:28681024-28681423	GM12891	blood:	n/a	chr18:28681245-28681258
49	POLR2A	chr18:28680300-28683139	MCF10A-Er-Src	breast:	n/a	n/a
50	SPI1	chr18:28681003-28681447	K562	blood:	n/a	chr18:28681245-28681258

No.	Distal block	Cell Line	Cell type
1	chr18:28678241..28681068-chr18:28692831..28695270,2	K562	blood:
2	chr18:28680816..28682711-chr18:29076315..29078384,2	K562	blood:
3	chr18:28663717..28665312-chr18:28679601..28681471,2	K562	blood:

Variant related genes	Relation type
ENSG00000265888	TF binding region
ENSG00000266521	Chromatin interaction
ENSG00000046604	Chromatin interaction

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:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28678800-28682400	Active TSS	Duodenum Mucosa	Duodenum
2	chr18:28679200-28682800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr18:28679800-28681200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr18:28679800-28682400	Active TSS	Esophagus	oesophagus
5	chr18:28679800-28682800	Active TSS	Rectal Smooth Muscle	rectum
6	chr18:28680000-28682600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr18:28680000-28682600	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr18:28680000-28682800	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr18:28680000-28682800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr18:28680200-28681200	Active TSS	Right Atrium	heart
11	chr18:28680200-28682000	Bivalent/Poised TSS	Fetal Stomach	stomach
12	chr18:28680200-28682400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr18:28680200-28682400	Active TSS	Rectal Mucosa Donor 31	rectum
14	chr18:28680200-28682600	Active TSS	Colon Smooth Muscle	Colon
15	chr18:28680200-28682600	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr18:28680200-28682600	Active TSS	Placenta Amnion	Placenta Amnion
17	chr18:28680200-28682800	Active TSS	H1 Cell Line	embryonic stem cell
18	chr18:28680200-28682800	Active TSS	H9 Cell Line	embryonic stem cell
19	chr18:28680200-28682800	Active TSS	Colonic Mucosa	Colon
20	chr18:28680200-28683000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr18:28680400-28681200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr18:28680400-28682000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr18:28680400-28682200	Active TSS	Placenta	Placenta
24	chr18:28680400-28682400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr18:28680400-28682400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr18:28680400-28682400	Bivalent/Poised TSS	Fetal Thymus	thymus
27	chr18:28680400-28682400	Active TSS	Pancreas	Pancrea
28	chr18:28680400-28682400	Active TSS	Sigmoid Colon	Sigmoid Colon
29	chr18:28680400-28682400	Active TSS	Stomach Mucosa	stomach
30	chr18:28680400-28682600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr18:28680400-28682600	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr18:28680400-28682600	Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr18:28680400-28682600	Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr18:28680400-28682600	Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr18:28680400-28682600	Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr18:28680400-28682600	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr18:28680400-28682600	Active TSS	Brain Anterior Caudate	brain
38	chr18:28680400-28682600	Active TSS	Right Ventricle	heart
39	chr18:28680400-28682800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr18:28680400-28682800	Active TSS	Fetal Intestine Large	intestine
41	chr18:28680400-28682800	Active TSS	Fetal Kidney	kidney
42	chr18:28680600-28681200	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr18:28680600-28681200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr18:28680600-28681200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
45	chr18:28680600-28681400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr18:28680600-28681800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr18:28680600-28681800	Active TSS	Fetal Heart	heart
48	chr18:28680600-28682200	Active TSS	HMEC	breast
49	chr18:28680600-28682400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr18:28680600-28682400	Active TSS	iPS-18 Cell Line	embryonic stem cell

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