Variant report

Variant	rs57867889
Chromosome Location	chr2:178259399-178259400
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr2:178258715-178259536	HepG2	liver:	n/a	chr2:178259089-178259104
2	RUNX3	chr2:178259209-178259679	GM12878	blood:	n/a	n/a
3	ZNF384	chr2:178259353-178259654	GM12878	blood:	n/a	n/a
4	TBL1XR1	chr2:178259171-178259449	K562	blood:	n/a	n/a
5	FOXA1	chr2:178258833-178259490	HepG2	liver:	n/a	chr2:178259089-178259104
6	SPI1	chr2:178259397-178259545	K562	blood:	n/a	n/a
7	TEAD4	chr2:178258581-178259422	HepG2	liver:	n/a	n/a
8	TBL1XR1	chr2:178259356-178259767	K562	blood:	n/a	n/a
9	POLR2A	chr2:178259240-178259430	HepG2	liver:	n/a	n/a
10	IKZF1	chr2:178259181-178259658	GM12878	blood:	n/a	n/a
11	SPI1	chr2:178258989-178259560	GM12878	blood:	n/a	n/a
12	EBF1	chr2:178259397-178259565	GM12878	blood:	n/a	n/a
13	ARID3A	chr2:178259229-178259723	K562	blood:	n/a	n/a
14	GATA3	chr2:178258779-178259558	MCF-7	breast:	n/a	n/a
15	SPI1	chr2:178258973-178259567	GM12891	blood:	n/a	n/a
16	MYBL2	chr2:178258761-178259775	HepG2	liver:	n/a	n/a
17	SPI1	chr2:178258936-178259705	HL-60	blood:	n/a	n/a
18	FOXA2	chr2:178258468-178259785	HepG2	liver:	n/a	n/a
19	SPI1	chr2:178258898-178259604	GM12878	blood:	n/a	n/a
20	MYBL2	chr2:178258835-178259822	HepG2	liver:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:178220224..178223052-chr2:178258523..178261393,2	K562	blood:
2	chr2:178199607..178202541-chr2:178258032..178259848,2	K562	blood:
3	chr2:178125970..178131401-chr2:178255081..178263132,15	K562	blood:
4	chr2:178257565..178262041-chr2:178276576..178279686,5	K562	blood:
5	chr2:178258938..178262041-chr2:178277248..178280629,3	K562	blood:
6	chr2:178220224..178223061-chr2:178258523..178262241,3	K562	blood:
7	chr2:178255830..178259425-chr2:178483453..178485926,4	K562	blood:
8	chr2:178259134..178259698-chr2:178588986..178589773,2	K562	blood:

No data

Variant related genes	Relation type
NFE2L2	TF binding region
ENSG00000213963	TF binding region
ENSG00000116044	Chromatin interaction
ENSG00000222043	Chromatin interaction
ENSG00000197557	Chromatin interaction

rs_ID	r²[population]
rs11902861	0.93[EUR][1000 genomes]
rs13410991	1.00[EUR][1000 genomes]
rs13420901	0.85[EUR][1000 genomes]
rs1869356	1.00[EUR][1000 genomes]
rs35124835	0.93[EUR][1000 genomes]
rs58334841	0.85[EUR][1000 genomes]
rs58725259	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59086514	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73033174	0.85[EUR][1000 genomes]
rs935427	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178256600-178259800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr2:178256600-178260200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:178256800-178259400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:178256800-178259600	Active TSS	HSMMtube	muscle
5	chr2:178256800-178259800	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr2:178256800-178261200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:178257000-178260000	Active TSS	Fetal Kidney	kidney
8	chr2:178257400-178259400	Active TSS	NH-A	brain
9	chr2:178257800-178259800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:178258000-178261800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:178258200-178259600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr2:178258200-178259600	Flanking Active TSS	Liver	Liver
13	chr2:178258200-178259600	Flanking Active TSS	HUVEC	blood vessel
14	chr2:178258200-178260600	Flanking Active TSS	Dnd41	blood
15	chr2:178258400-178259600	Enhancers	Primary B cells from peripheral blood	blood
16	chr2:178258400-178259600	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr2:178258400-178259600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
18	chr2:178258400-178259800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr2:178258400-178260200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr2:178258400-178260200	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr2:178258400-178261000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:178258400-178261000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:178258400-178261200	Weak transcription	Esophagus	oesophagus
24	chr2:178258400-178261200	Weak transcription	Gastric	stomach
25	chr2:178258400-178261600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:178258400-178261600	Weak transcription	Placenta	Placenta
27	chr2:178258400-178261800	Weak transcription	Fetal Muscle Trunk	muscle
28	chr2:178258400-178261800	Weak transcription	Left Ventricle	heart
29	chr2:178258400-178262400	Weak transcription	Pancreas	Pancrea
30	chr2:178258400-178262400	Weak transcription	Small Intestine	intestine
31	chr2:178258400-178262800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr2:178258400-178263000	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr2:178258400-178263200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr2:178258400-178264400	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr2:178258400-178264400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr2:178258400-178272600	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr2:178258600-178259400	Enhancers	Brain Angular Gyrus	brain
38	chr2:178258600-178259400	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr2:178258600-178259400	Flanking Active TSS	Hela-S3	cervix
40	chr2:178258600-178259400	Flanking Bivalent TSS/Enh	HepG2	liver
41	chr2:178258600-178259600	Flanking Active TSS	A549	lung
42	chr2:178258600-178260200	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr2:178258600-178260200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr2:178258600-178260200	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr2:178258600-178260400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
46	chr2:178258600-178260600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr2:178258600-178261200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:178258600-178261200	Weak transcription	Colonic Mucosa	Colon
49	chr2:178258600-178261200	Weak transcription	NHLF	lung
50	chr2:178258600-178262400	Weak transcription	Fetal Thymus	thymus

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