Variant report

Variant	rs7556811
Chromosome Location	chr2:113597347-113597348
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	STAT3	chr2:113596940-113597978	MCF10A-Er-Src	breast:	n/a	chr2:113597218-113597229 chr2:113597365-113597377 chr2:113597860-113597869 chr2:113597859-113597868 chr2:113597164-113597176
2	SPI1	chr2:113597015-113597395	GM12891	blood:	n/a	chr2:113597218-113597227
3	FOS	chr2:113596864-113597411	MCF10A-Er-Src	breast:	n/a	n/a
4	MYC	chr2:113596939-113597461	MCF10A-Er-Src	breast:	n/a	n/a
5	CEBPB	chr2:113597071-113597382	HepG2	liver:	n/a	chr2:113597243-113597254 chr2:113597245-113597254 chr2:113597244-113597255
6	STAT3	chr2:113597062-113597970	MCF10A-Er-Src	breast:	n/a	chr2:113597218-113597229 chr2:113597365-113597377 chr2:113597860-113597869 chr2:113597859-113597868 chr2:113597164-113597176
7	CEBPB	chr2:113597096-113597430	K562	blood:	n/a	chr2:113597243-113597254 chr2:113597245-113597254 chr2:113597244-113597255
8	CEBPB	chr2:113597108-113597355	IMR90	lung:	n/a	chr2:113597243-113597254 chr2:113597245-113597254 chr2:113597244-113597255
9	FOS	chr2:113596840-113598052	MCF10A-Er-Src	breast:	n/a	chr2:113597865-113597874 chr2:113597860-113597868 chr2:113597861-113597868 chr2:113597640-113597649 chr2:113597859-113597868 chr2:113597482-113597490 chr2:113597860-113597869
10	FOS	chr2:113596835-113598049	MCF10A-Er-Src	breast:	n/a	chr2:113597865-113597874 chr2:113597860-113597868 chr2:113597861-113597868 chr2:113597640-113597649 chr2:113597859-113597868 chr2:113597482-113597490 chr2:113597860-113597869
11	CEBPB	chr2:113597112-113597375	A549	lung:	n/a	chr2:113597243-113597254 chr2:113597245-113597254 chr2:113597244-113597255
12	FOS	chr2:113596862-113597430	MCF10A-Er-Src	breast:	n/a	n/a
13	STAT3	chr2:113596947-113597497	MCF10A-Er-Src	breast:	n/a	chr2:113597218-113597229 chr2:113597365-113597377 chr2:113597164-113597176
14	SPI1	chr2:113597086-113597740	HL-60	blood:	n/a	chr2:113597510-113597523 chr2:113597509-113597522 chr2:113597218-113597227 chr2:113597511-113597520

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:113596356..113598825-chr2:113604006..113606020,2	MCF-7	breast:
2	chr2:113589535..113594443-chr2:113597235..113600189,5	K562	blood:

Variant related genes	Relation type
IL1B	TF binding region
ENSG00000221541	TF binding region
ENSG00000125538	Chromatin interaction

rs_ID	r²[population]
rs10496443	1.00[AMR][1000 genomes]
rs1143631	1.00[AMR][1000 genomes]
rs17042486	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3783565	1.00[AMR][1000 genomes]
rs57986359	1.00[AMR][1000 genomes]
rs6707608	1.00[AMR][1000 genomes]
rs6721020	1.00[AMR][1000 genomes]
rs6722276	1.00[AMR][1000 genomes]
rs6726111	1.00[AMR][1000 genomes]
rs6748751	1.00[AMR][1000 genomes]
rs72942424	1.00[AMR][1000 genomes]
rs72942425	1.00[AMR][1000 genomes]
rs72942429	1.00[AMR][1000 genomes]
rs7556903	1.00[AMR][1000 genomes]
rs7590199	1.00[AMR][1000 genomes]
rs7590499	1.00[AMR][1000 genomes]

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113591200-113600200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:113594000-113598000	Weak transcription	Stomach Mucosa	stomach
3	chr2:113594400-113598200	Enhancers	HMEC	breast
4	chr2:113594400-113600200	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr2:113594400-113601200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr2:113594600-113597400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr2:113595000-113597600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:113595000-113597600	Weak transcription	Adipose Nuclei	Adipose
9	chr2:113595000-113599400	Enhancers	Primary hematopoietic stem cells	blood
10	chr2:113595000-113600200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:113595200-113597400	Weak transcription	Spleen	Spleen
12	chr2:113595200-113597600	Weak transcription	Osteobl	bone
13	chr2:113596000-113600800	Enhancers	Primary B cells from peripheral blood	blood
14	chr2:113596600-113597800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr2:113596600-113598800	Enhancers	GM12878-XiMat	blood
16	chr2:113596800-113597600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:113596800-113598000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:113596800-113598000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr2:113596800-113598200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:113596800-113598400	Enhancers	NHEK	skin
21	chr2:113597000-113597400	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr2:113597000-113597600	Enhancers	NHDF-Ad	bronchial
23	chr2:113597200-113597400	Enhancers	Liver	Liver
24	chr2:113597200-113597600	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr2:113597200-113598200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:113597200-113598400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:113597200-113598600	Weak transcription	Rectal Mucosa Donor 29	rectum

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