Variant report

Variant	rs533490633
Chromosome Location	chr5:178422060-178422061
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv600489	chr5:178368096-178430375	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1017941	chr5:178384214-178427401	ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv537974	chr5:178384214-178427401	ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv883219	chr5:178390237-178454118	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv883220	chr5:178394717-178454118	ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv600490	chr5:178405251-178430375	Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv883221	chr5:178410538-178454118	Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1024560	chr5:178415364-178917595	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv537975	chr5:178415364-178917595	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv817413	chr5:178415365-179020558	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
11	esv3415652	chr5:178420896-178422994	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178421200-178422200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
2	chr5:178421200-178422200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
3	chr5:178421200-178422400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
4	chr5:178421200-178422600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr5:178421200-178422800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr5:178421200-178422800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
7	chr5:178421400-178422200	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
8	chr5:178421400-178422400	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:178421400-178422400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:178421400-178422400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
11	chr5:178421400-178422400	Bivalent Enhancer	Lung	lung
12	chr5:178421400-178422400	Enhancers	Right Atrium	heart
13	chr5:178421400-178422400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
14	chr5:178421400-178422600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
15	chr5:178421400-178422600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:178421400-178422800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
17	chr5:178421400-178423000	Bivalent/Poised TSS	Fetal Brain Female	brain
18	chr5:178421600-178422200	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:178421600-178422200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:178421600-178422200	Active TSS	Psoas Muscle	Psoas
21	chr5:178421600-178422400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:178421600-178422400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr5:178421800-178422200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr5:178421800-178422200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr5:178421800-178422400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:178421800-178422400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
27	chr5:178421800-178422400	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr5:178421800-178422600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
29	chr5:178421800-178422600	Enhancers	Primary hematopoietic stem cells	blood
30	chr5:178422000-178422200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
31	chr5:178422000-178422200	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
32	chr5:178422000-178422200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
33	chr5:178422000-178422200	Bivalent/Poised TSS	Right Ventricle	heart
34	chr5:178422000-178422600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell

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