Variant report

Variant	rs546859117
Chromosome Location	chr8:124605427-124605428
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:124603169..124606438-chr8:124607098..124610050,3	MCF-7	breast:
2	chr8:124600695..124604171-chr8:124604350..124608237,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251840	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831450	chr8:124471741-124661359	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv612140	chr8:124604759-124738618	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124599600-124606200	Enhancers	Skeletal Muscle Male	skeletal muscle
2	chr8:124601400-124607200	Enhancers	Osteobl	bone
3	chr8:124602400-124609000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr8:124603400-124605600	Enhancers	NHLF	lung
5	chr8:124604200-124605600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:124604200-124606400	Enhancers	K562	blood
7	chr8:124604200-124606800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr8:124604400-124605800	Enhancers	Fetal Stomach	stomach
9	chr8:124604400-124607200	Enhancers	HSMMtube	muscle
10	chr8:124604400-124609200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr8:124604800-124605600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:124604800-124605600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr8:124604800-124605600	Weak transcription	Fetal Lung	lung
14	chr8:124604800-124606600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:124604800-124607000	Weak transcription	Ovary	ovary
16	chr8:124604800-124607200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr8:124604800-124608600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr8:124604800-124609200	Weak transcription	Aorta	Aorta
19	chr8:124605000-124606000	Weak transcription	HMEC	breast
20	chr8:124605000-124606200	Weak transcription	HSMM	muscle
21	chr8:124605000-124608600	Weak transcription	Pancreas	Pancrea
22	chr8:124605000-124608800	Weak transcription	Placenta	Placenta
23	chr8:124605000-124609800	Weak transcription	Colon Smooth Muscle	Colon
24	chr8:124605200-124606200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:124605200-124606600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr8:124605400-124605600	Enhancers	Right Ventricle	heart
27	chr8:124605400-124605800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr8:124605400-124606200	Enhancers	Right Atrium	heart
29	chr8:124605400-124606600	Enhancers	Psoas Muscle	Psoas
30	chr8:124605400-124607200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr8:124605400-124608400	Weak transcription	NHDF-Ad	bronchial
32	chr8:124605400-124608600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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