Variant report

Variant	rs73334200
Chromosome Location	chr8:125870605-125870606
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125870078..125872946-chr8:125880944..125883376,2	K562	blood:
2	chr8:125866488..125871186-chr8:126008597..126013344,9	MCF-7	breast:
3	chr8:125736316..125742243-chr8:125861977..125870763,24	MCF-7	breast:
4	chr8:125849910..125851599-chr8:125869943..125871688,2	MCF-7	breast:
5	chr8:125870030..125871866-chr8:125906853..125908897,2	MCF-7	breast:
6	chr8:125824915..125827447-chr8:125870554..125873163,2	K562	blood:
7	chr8:125734815..125743876-chr8:125864194..125871100,21	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104549	Chromatin interaction
ENSG00000170873	Chromatin interaction
ENSG00000253513	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs73331812	1.00[AFR][1000 genomes]
rs73334185	1.00[AFR][1000 genomes]
rs73337780	1.00[AFR][1000 genomes]
rs73339757	0.93[AFR][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	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	chr8:125869200-125871000	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr8:125869200-125871000	Enhancers	Esophagus	oesophagus
3	chr8:125869400-125872600	Weak transcription	NHDF-Ad	bronchial
4	chr8:125869400-125873400	Weak transcription	Right Atrium	heart
5	chr8:125869400-125876400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:125869600-125871000	Enhancers	HMEC	breast
7	chr8:125869600-125872600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:125869600-125873600	Weak transcription	Right Ventricle	heart
9	chr8:125869800-125873200	Weak transcription	Ovary	ovary
10	chr8:125869800-125873200	Weak transcription	K562	blood
11	chr8:125869800-125873400	Weak transcription	Left Ventricle	heart
12	chr8:125869800-125874000	Weak transcription	Osteobl	bone
13	chr8:125869800-125874400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:125869800-125878200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:125870000-125873400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr8:125870200-125874000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:125870200-125879000	Weak transcription	Fetal Heart	heart
18	chr8:125870400-125870800	Weak transcription	NHEK	skin
19	chr8:125870400-125871200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:125870600-125871000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:125870600-125871200	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr8:125870600-125871400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr8:125870600-125879200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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