Variant report

Variant	rs547453997
Chromosome Location	chr5:147112478-147112479
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3444248	chr5:147094808-147116217	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv1021356	chr5:147103627-147310531	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1033907	chr5:147109014-147309076	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv537916	chr5:147109014-147309076	Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv3404718	chr5:147111059-147115357	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases
6	esv3393638	chr5:147111959-147116157	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147078600-147146000	Weak transcription	Primary T cells from cord blood	blood
2	chr5:147101600-147114400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:147102200-147114400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr5:147103600-147121800	Weak transcription	Fetal Brain Male	brain
5	chr5:147105600-147114200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr5:147105800-147114400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr5:147107200-147112800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:147109800-147113400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:147110400-147113000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:147110400-147113000	Enhancers	Brain Substantia Nigra	brain
11	chr5:147111200-147112600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:147111200-147114600	Weak transcription	Stomach Mucosa	stomach
13	chr5:147111400-147112600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr5:147111800-147112800	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr5:147111800-147126600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:147112000-147112600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr5:147112000-147112800	Weak transcription	Fetal Brain Female	brain
18	chr5:147112000-147114400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr5:147112000-147126600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr5:147112200-147112600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr5:147112200-147112600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr5:147112200-147112600	Enhancers	Brain Hippocampus Middle	brain
23	chr5:147112200-147112800	Enhancers	Brain Cingulate Gyrus	brain
24	chr5:147112200-147113000	Enhancers	Brain Anterior Caudate	brain
25	chr5:147112200-147114200	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr5:147112200-147114400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr5:147112200-147114400	Weak transcription	Fetal Lung	lung
28	chr5:147112400-147112600	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr5:147112400-147112600	Enhancers	Brain Angular Gyrus	brain
30	chr5:147112400-147113000	Enhancers	Brain Germinal Matrix	brain

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