Variant report

Variant	rs544338158
Chromosome Location	chr5:111341486-111341487
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	nsv599367	chr5:110924280-111602713	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv2829846	chr5:111341445-111435769	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111337200-111342600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:111338000-111343000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:111339600-111343600	Enhancers	Osteobl	bone
4	chr5:111339800-111341600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:111339800-111343200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:111339800-111343200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:111340000-111341600	Enhancers	HMEC	breast
8	chr5:111340000-111341600	Enhancers	HSMM	muscle
9	chr5:111340000-111342800	Enhancers	NHLF	lung
10	chr5:111340000-111343000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr5:111340200-111341600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:111340200-111341600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:111340200-111341600	Enhancers	NHEK	skin
14	chr5:111340200-111343200	Enhancers	NH-A	brain
15	chr5:111340800-111341600	Enhancers	Adipose Nuclei	Adipose
16	chr5:111340800-111341600	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr5:111341000-111343000	Enhancers	NHDF-Ad	bronchial
18	chr5:111341200-111342400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:111341400-111342400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:111341400-111342600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:111341400-111342600	Weak transcription	HSMMtube	muscle
22	chr5:111341400-111342800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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