Variant report

Variant	rs4019243
Chromosome Location	chr5:90587888-90587889
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: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10038090	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10061355	0.83[ASN][1000 genomes]
rs10462343	0.90[ASN][1000 genomes]
rs10462492	0.93[ASN][1000 genomes]
rs10474346	0.84[ASN][1000 genomes]
rs10474347	0.91[ASN][1000 genomes]
rs10805873	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12697807	0.91[ASN][1000 genomes]
rs13171635	0.97[ASN][1000 genomes]
rs1511344	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1511345	0.98[ASN][1000 genomes]
rs1543066	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1858309	0.81[ASN][1000 genomes]
rs2048451	0.88[ASN][1000 genomes]
rs2048452	0.88[ASN][1000 genomes]
rs4019302	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4364415	0.88[ASN][1000 genomes]
rs4377733	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4424024	0.83[ASN][1000 genomes]
rs4518439	0.80[EUR][1000 genomes]
rs6859170	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6869552	0.94[ASN][1000 genomes]
rs6882172	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6885341	0.88[ASN][1000 genomes]
rs6888389	0.86[ASN][1000 genomes]
rs6888674	0.86[ASN][1000 genomes]
rs6889197	0.88[ASN][1000 genomes]
rs6897578	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6898622	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7709572	0.82[ASN][1000 genomes]
rs7719516	0.84[ASN][1000 genomes]
rs7724489	0.82[ASN][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:22 , 50 per page) page: 1

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

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