Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:85670785-85671046	HepG2	liver:	n/a	chr1:85670899-85670910 chr1:85670928-85670941 chr1:85670928-85670939 chr1:85670897-85670908 chr1:85670928-85670941
2	CEBPB	chr1:85670813-85671041	K562	blood:	n/a	chr1:85670899-85670910 chr1:85670928-85670941 chr1:85670928-85670939 chr1:85670897-85670908 chr1:85670928-85670941
3	CEBPB	chr1:85670755-85671099	Hela-S3	cervix:	n/a	chr1:85670899-85670910 chr1:85670928-85670941 chr1:85670928-85670939 chr1:85670897-85670908 chr1:85670928-85670941
4	FOS	chr1:85670865-85671096	MCF10A-Er-Src	breast:	n/a	chr1:85670900-85670912
5	FOS	chr1:85670873-85671099	MCF10A-Er-Src	breast:	n/a	chr1:85670900-85670912

No.	Distal block	Cell Line	Cell type
1	chr1:85667789..85671155-chr1:85672864..85676253,5	K562	blood:
2	chr1:85667494..85671075-chr1:85689483..85691213,3	K562	blood:
3	chr1:85669385..85672155-chr1:85695196..85696982,2	MCF-7	breast:
4	chr1:85577108..85579673-chr1:85668839..85670943,2	MCF-7	breast:
5	chr1:85669575..85671940-chr1:85689295..85691213,2	K562	blood:
6	chr1:85669367..85672657-chr1:85673254..85676355,4	MCF-7	breast:

Variant related genes	Relation type
SYDE2	TF binding region

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11805576	1.00[AMR][1000 genomes]
rs17123230	1.00[AMR][1000 genomes]
rs17125247	1.00[AMR][1000 genomes]
rs2790912	1.00[AMR][1000 genomes]
rs709784	1.00[AMR][1000 genomes]
rs817402	1.00[AMR][1000 genomes]
rs817405	1.00[AMR][1000 genomes]
rs817408	1.00[AMR][1000 genomes]
rs817412	1.00[AMR][1000 genomes]
rs817442	1.00[AMR][1000 genomes]
rs817443	1.00[AMR][1000 genomes]
rs817444	1.00[AMR][1000 genomes]
rs817448	1.00[AMR][1000 genomes]
rs817450	1.00[AMR][1000 genomes]
rs817454	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs817455	0.85[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs817460	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs817461	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830459	chr1:85589585-85786311	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85668000-85671000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:85668000-85671000	Enhancers	Muscle Satellite Cultured Cells	--
3	chr1:85668000-85689000	Weak transcription	Gastric	stomach
4	chr1:85668400-85671200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:85668400-85671200	Enhancers	Hela-S3	cervix
6	chr1:85668400-85677800	Weak transcription	Right Atrium	heart
7	chr1:85668600-85672000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:85668600-85680800	Weak transcription	K562	blood
9	chr1:85668800-85671200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:85668800-85672000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:85668800-85672000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr1:85668800-85672000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr1:85668800-85672200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr1:85669000-85672000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr1:85669200-85671200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:85669600-85671000	Enhancers	NHEK	skin
17	chr1:85669600-85671200	Enhancers	Fetal Heart	heart
18	chr1:85670000-85672000	Weak transcription	Colon Smooth Muscle	Colon
19	chr1:85670400-85671200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:85670800-85679400	Weak transcription	Rectal Smooth Muscle	rectum

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