Variant report

Variant	rs4521517
Chromosome Location	chr5:90587738-90587739
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:90587431..90589367-chr5:90671684..90673655,2	K562	blood:
2	chr5:90584273..90591126-chr5:90674763..90680414,9	K562	blood:
3	chr5:90587280..90591126-chr5:90675107..90680453,11	K562	blood:
4	chr5:90586245..90589226-chr5:90591363..90594603,3	K562	blood:

Variant related genes	Relation type
ENSG00000113369	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2941904	0.81[AFR][1000 genomes]
rs2973458	0.90[AFR][1000 genomes]
rs2973462	0.90[AFR][1000 genomes]
rs2973469	0.90[AFR][1000 genomes]
rs4311449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59490962	1.00[AMR][1000 genomes]
rs6863569	1.00[AMR][1000 genomes]
rs6866036	1.00[AMR][1000 genomes]
rs6868305	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7709505	0.95[AFR][1000 genomes]

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	nsv1024813	chr5:90321535-90870739	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv537806	chr5:90321535-90870739	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90583800-90587800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:90584000-90589000	Weak transcription	Placenta	Placenta
3	chr5:90584600-90589600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:90584800-90588000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr5:90584800-90589000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:90584800-90589200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr5:90585000-90589000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:90585000-90592000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr5:90585400-90589400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr5:90585800-90588200	Weak transcription	Thymus	Thymus
11	chr5:90586000-90588800	Weak transcription	Fetal Heart	heart
12	chr5:90586000-90592000	Weak transcription	Right Atrium	heart
13	chr5:90586800-90588400	Enhancers	K562	blood
14	chr5:90587000-90589800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:90587200-90588200	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr5:90587200-90589200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr5:90587200-90589400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr5:90587200-90590400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:90587400-90588000	Enhancers	Fetal Thymus	thymus
20	chr5:90587400-90589800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr5:90587600-90589000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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