Variant report

Variant	rs28642893
Chromosome Location	chr18:43620794-43620795
allele	A/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	MYC	chr18:43619911-43621091	K562	blood:	n/a	chr18:43620787-43620797 chr18:43620900-43620911 chr18:43620790-43620797
2	MYC	chr18:43619977-43621174	K562	blood:	n/a	chr18:43620787-43620797 chr18:43620900-43620911 chr18:43620790-43620797
3	SPI1	chr18:43620606-43620884	K562	blood:	n/a	chr18:43620762-43620775 chr18:43620768-43620777 chr18:43620761-43620774 chr18:43620764-43620773
4	MAX	chr18:43620645-43620935	NB4	blood:	n/a	chr18:43620787-43620797 chr18:43620900-43620911 chr18:43620790-43620797
5	MAX	chr18:43620544-43621042	K562	blood:	n/a	chr18:43620787-43620797 chr18:43620900-43620911 chr18:43620790-43620797
6	SPI1	chr18:43620500-43620888	GM12891	blood:	n/a	chr18:43620762-43620775 chr18:43620768-43620777 chr18:43620761-43620774 chr18:43620764-43620773
7	SPI1	chr18:43620589-43620920	GM12878	blood:	n/a	chr18:43620762-43620775 chr18:43620768-43620777 chr18:43620761-43620774 chr18:43620764-43620773
8	RCOR1	chr18:43619842-43621112	K562	blood:	n/a	n/a
9	SPI1	chr18:43620643-43620879	K562	blood:	n/a	chr18:43620762-43620775 chr18:43620768-43620777 chr18:43620761-43620774 chr18:43620764-43620773
10	SPI1	chr18:43620300-43621250	GM12878	blood:	n/a	chr18:43620762-43620775 chr18:43620450-43620463 chr18:43620768-43620777 chr18:43620761-43620774 chr18:43620764-43620773
11	CUX1	chr18:43620773-43620805	GM12878	blood:	n/a	n/a
12	MYC	chr18:43620634-43620915	NB4	blood:	n/a	chr18:43620787-43620797 chr18:43620900-43620911 chr18:43620790-43620797
13	SPI1	chr18:43620564-43620953	GM12891	blood:	n/a	chr18:43620762-43620775 chr18:43620768-43620777 chr18:43620761-43620774 chr18:43620764-43620773
14	MAX	chr18:43620563-43621059	K562	blood:	n/a	chr18:43620787-43620797 chr18:43620900-43620911 chr18:43620790-43620797
15	EP300	chr18:43619682-43621096	K562	blood:	n/a	chr18:43619838-43619847 chr18:43620764-43620773 chr18:43620763-43620777
16	SPI1	chr18:43620449-43621101	HL-60	blood:	n/a	chr18:43620762-43620775 chr18:43620450-43620463 chr18:43620768-43620777 chr18:43620761-43620774 chr18:43620764-43620773
17	SPI1	chr18:43620643-43620832	GM12878	blood:	n/a	chr18:43620762-43620775 chr18:43620768-43620777 chr18:43620761-43620774 chr18:43620764-43620773
18	MAX	chr18:43620642-43620903	K562	blood:	n/a	chr18:43620787-43620797 chr18:43620790-43620797
19	MYC	chr18:43620028-43621180	K562	blood:	n/a	chr18:43620787-43620797 chr18:43620900-43620911 chr18:43620790-43620797
20	E2F6	chr18:43620728-43620928	K562	blood:	n/a	n/a
21	CUX1	chr18:43620112-43621085	K562	blood:	n/a	n/a
22	BHLHE40	chr18:43620657-43620941	GM12878	blood:	n/a	n/a
23	ELF1	chr18:43620575-43621151	K562	blood:	n/a	chr18:43620762-43620773 chr18:43620763-43620774
24	BHLHE40	chr18:43619985-43621193	K562	blood:	n/a	n/a
25	SPI1	chr18:43620555-43621035	HL-60	blood:	n/a	chr18:43620762-43620775 chr18:43620768-43620777 chr18:43620761-43620774 chr18:43620764-43620773

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:43620677..43623447-chr18:43630437..43631951,2	K562	blood:

Variant related genes	Relation type
PSTPIP2	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs2289264	1.00[ASN][1000 genomes]
rs28391547	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28432272	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28457629	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28528989	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6507684	1.00[EUR][1000 genomes]
rs72903445	1.00[ASN][1000 genomes]
rs72903447	1.00[ASN][1000 genomes]
rs72903448	1.00[ASN][1000 genomes]
rs72903449	1.00[ASN][1000 genomes]
rs72903452	1.00[ASN][1000 genomes]
rs73438301	1.00[ASN][1000 genomes]
rs8084445	1.00[ASN][1000 genomes]
rs8095711	1.00[ASN][1000 genomes]
rs8098010	1.00[ASN][1000 genomes]
rs9944600	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9951642	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9954430	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9957650	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9964286	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9965475	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv1064882	chr18:43558343-43687674	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv543693	chr18:43558343-43687674	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1062024	chr18:43589516-43749410	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv543694	chr18:43589516-43749410	Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43571400-43622000	Weak transcription	Gastric	stomach
2	chr18:43608600-43651000	Weak transcription	Esophagus	oesophagus
3	chr18:43608800-43631800	Weak transcription	NHLF	lung
4	chr18:43608800-43632000	Weak transcription	Aorta	Aorta
5	chr18:43609000-43622200	Weak transcription	Brain Hippocampus Middle	brain
6	chr18:43609000-43622200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr18:43609000-43622200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr18:43609000-43622200	Weak transcription	Thymus	Thymus
9	chr18:43609000-43631800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr18:43609000-43631800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr18:43609800-43628000	Weak transcription	Fetal Intestine Small	intestine
12	chr18:43613200-43622200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr18:43613600-43620800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr18:43614800-43621800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr18:43615800-43622200	Weak transcription	Osteobl	bone
16	chr18:43616000-43622200	Weak transcription	NHDF-Ad	bronchial
17	chr18:43616000-43622400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr18:43617400-43631800	Weak transcription	Left Ventricle	heart
19	chr18:43617600-43621200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr18:43617800-43621800	Weak transcription	Adipose Nuclei	Adipose
21	chr18:43618800-43631000	Weak transcription	Liver	Liver
22	chr18:43618800-43631400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr18:43619000-43621400	Enhancers	Spleen	Spleen
24	chr18:43619200-43623400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr18:43619400-43621000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr18:43619400-43622000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr18:43619400-43622600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr18:43619400-43623800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr18:43619600-43620800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr18:43619600-43622800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr18:43619600-43623800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr18:43619800-43621400	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr18:43619800-43623600	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr18:43619800-43623800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr18:43619800-43623800	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr18:43619800-43623800	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr18:43620000-43621000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr18:43620000-43621000	Enhancers	NH-A	brain
39	chr18:43620000-43623200	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr18:43620000-43623400	Enhancers	Primary T cells fromperipheralblood	blood
41	chr18:43620000-43623600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr18:43620000-43623800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr18:43620000-43623800	Enhancers	HMEC	breast
44	chr18:43620200-43621000	Enhancers	Primary T cells from cord blood	blood
45	chr18:43620200-43621000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr18:43620200-43621800	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr18:43620200-43623600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr18:43620200-43623600	Enhancers	Dnd41	blood
49	chr18:43620200-43623800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr18:43620200-43636000	Weak transcription	Lung	lung

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