Variant report

Variant	rs558767316
Chromosome Location	chr8:125869806-125869807
allele	C/T
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	FOS	chr8:125869647-125869825	MCF10A-Er-Src	breast:	n/a	n/a
2	HDAC2	chr8:125868659-125870122	MCF-7	breast:	n/a	n/a
3	MAX	chr8:125868741-125869929	MCF-7	breast:	n/a	n/a
4	EP300	chr8:125868628-125870583	MCF-7	breast:	n/a	n/a
5	FOXM1	chr8:125868723-125870074	MCF-7	breast:	n/a	n/a
6	FOS	chr8:125868658-125870082	MCF10A-Er-Src	breast:	n/a	chr8:125868843-125868853 chr8:125868842-125868854 chr8:125868843-125868853
7	GATA3	chr8:125868732-125870171	MCF-7	breast:	n/a	chr8:125868829-125868837
8	REST	chr8:125868851-125869937	MCF-7	breast:	n/a	n/a
9	GATA3	chr8:125868808-125869998	MCF-7	breast:	n/a	chr8:125868829-125868837
10	NR2F2	chr8:125868682-125870204	MCF-7	breast:	n/a	n/a
11	GATA3	chr8:125868532-125869975	MCF-7	breast:	n/a	chr8:125868829-125868837

No.	Distal block	Cell Line	Cell type
1	chr8:125868981..125870600-chr8:125931109..125933368,2	MCF-7	breast:
2	chr8:125866488..125871186-chr8:126008597..126013344,9	MCF-7	breast:
3	chr8:125736316..125742243-chr8:125861977..125870763,24	MCF-7	breast:
4	chr8:125734815..125743876-chr8:125864194..125871100,21	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255080	TF binding region
ENSG00000250428	Chromatin interaction
ENSG00000104549	Chromatin interaction
ENSG00000253513	Chromatin interaction
ENSG00000170873	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1030803	chr8:125868684-125969635	Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	nsv1024405	chr8:125868684-125971035	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1020502	chr8:125868684-125972572	Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125868600-125870600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr8:125868600-125870600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:125869200-125870000	Enhancers	Spleen	Spleen
4	chr8:125869200-125870200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:125869200-125871000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr8:125869200-125871000	Enhancers	Esophagus	oesophagus
7	chr8:125869400-125870000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr8:125869400-125870400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:125869400-125872600	Weak transcription	NHDF-Ad	bronchial
10	chr8:125869400-125873400	Weak transcription	Right Atrium	heart
11	chr8:125869400-125876400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr8:125869600-125870400	Enhancers	NHEK	skin
13	chr8:125869600-125871000	Enhancers	HMEC	breast
14	chr8:125869600-125872600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:125869600-125873600	Weak transcription	Right Ventricle	heart
16	chr8:125869800-125870000	Flanking Active TSS	Fetal Heart	heart
17	chr8:125869800-125870600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr8:125869800-125873200	Weak transcription	Ovary	ovary
19	chr8:125869800-125873200	Weak transcription	K562	blood
20	chr8:125869800-125873400	Weak transcription	Left Ventricle	heart
21	chr8:125869800-125874000	Weak transcription	Osteobl	bone
22	chr8:125869800-125874400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:125869800-125878200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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