Variant report

Variant	rs112195675
Chromosome Location	chr8:49290174-49290175
allele	C/T
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:32 , 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	chr8:49285600-49292400	Enhancers	NHDF-Ad	bronchial
4	chr8:49286600-49292400	Weak transcription	Spleen	Spleen
5	chr8:49288000-49290400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:49288000-49290600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr8:49288000-49290600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:49288000-49290600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr8:49288000-49290600	Enhancers	Fetal Muscle Leg	muscle
10	chr8:49288000-49290600	Enhancers	Osteobl	bone
11	chr8:49288000-49292400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr8:49288000-49292400	Enhancers	Placenta Amnion	Placenta Amnion
13	chr8:49288200-49292600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:49288600-49290400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:49288600-49290400	Enhancers	NH-A	brain
16	chr8:49288600-49290600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:49288600-49290600	Enhancers	Placenta	Placenta
18	chr8:49288800-49290600	Enhancers	Muscle Satellite Cultured Cells	--
19	chr8:49289000-49290200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:49289000-49290400	Enhancers	HSMM	muscle
21	chr8:49289000-49292000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:49289200-49290600	Enhancers	Fetal Stomach	stomach
23	chr8:49289200-49290600	Enhancers	Fetal Thymus	thymus
24	chr8:49289200-49290600	Enhancers	HSMMtube	muscle
25	chr8:49289400-49291400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr8:49289600-49290600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr8:49289600-49290600	Enhancers	Stomach Mucosa	stomach
28	chr8:49289800-49290600	Enhancers	Fetal Lung	lung
29	chr8:49289800-49290600	Enhancers	Gastric	stomach
30	chr8:49289800-49291400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:49289800-49291800	Weak transcription	NHLF	lung
32	chr8:49290000-49290400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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