Variant report

Variant	rs542578096
Chromosome Location	chr8:49289515-49289516
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:49286935..49290413-chr8:49291309..49294157,4	MCF-7	breast:

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	nsv831311	chr8:49106160-49290209	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv3376921	chr8:49289399-49293597	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49284200-49291000	Weak transcription	Fetal Intestine Small	intestine
2	chr8:49284200-49291400	Weak transcription	Fetal Kidney	kidney
3	chr8:49285000-49289800	Weak transcription	Fetal Lung	lung
4	chr8:49285600-49290000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:49285600-49292400	Enhancers	NHDF-Ad	bronchial
6	chr8:49286400-49289600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr8:49286600-49292400	Weak transcription	Spleen	Spleen
8	chr8:49288000-49289800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:49288000-49289800	Enhancers	Fetal Muscle Trunk	muscle
10	chr8:49288000-49289800	Enhancers	NHLF	lung
11	chr8:49288000-49290400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:49288000-49290600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr8:49288000-49290600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:49288000-49290600	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr8:49288000-49290600	Enhancers	Fetal Muscle Leg	muscle
16	chr8:49288000-49290600	Enhancers	Osteobl	bone
17	chr8:49288000-49292400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr8:49288000-49292400	Enhancers	Placenta Amnion	Placenta Amnion
19	chr8:49288200-49292600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr8:49288600-49290400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:49288600-49290400	Enhancers	NH-A	brain
22	chr8:49288600-49290600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:49288600-49290600	Enhancers	Placenta	Placenta
24	chr8:49288800-49289800	Weak transcription	Gastric	stomach
25	chr8:49288800-49290600	Enhancers	Muscle Satellite Cultured Cells	--
26	chr8:49289000-49289600	Weak transcription	Stomach Mucosa	stomach
27	chr8:49289000-49290200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:49289000-49290400	Enhancers	HSMM	muscle
29	chr8:49289000-49292000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr8:49289200-49290600	Enhancers	Fetal Stomach	stomach
31	chr8:49289200-49290600	Enhancers	Fetal Thymus	thymus
32	chr8:49289200-49290600	Enhancers	HSMMtube	muscle
33	chr8:49289400-49290000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr8:49289400-49291400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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