Variant report

Variant	rs4916853
Chromosome Location	chr5:90588318-90588319
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: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10057046	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10462494	0.89[ASN][1000 genomes]
rs10462495	0.89[ASN][1000 genomes]
rs13356765	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2048453	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2048454	0.90[CEU][hapmap];0.85[CHB][hapmap];0.82[CHD][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs2137007	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2973460	0.81[CEU][hapmap];0.82[CHD][hapmap]
rs2973468	0.81[CHD][hapmap]
rs4916706	0.81[CEU][hapmap];0.85[CHB][hapmap]
rs4916707	0.85[CHB][hapmap]
rs4916854	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4916857	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6865066	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6865269	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.89[ASN][1000 genomes]
rs6877420	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6880312	0.89[ASN][1000 genomes]
rs7341005	0.81[CEU][hapmap]
rs7704529	0.91[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7705128	0.85[CHB][hapmap]
rs7712260	0.90[CEU][hapmap];0.92[TSI][hapmap]
rs7721772	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7727557	0.89[ASN][1000 genomes]
rs7732832	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.92[ASN][1000 genomes]
rs9293562	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9293564	0.94[EUR][1000 genomes];0.93[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:27 , 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	chr5:90584800-90589000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr5:90584800-90589200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr5:90585000-90589000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:90585000-90592000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr5:90585400-90589400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr5:90586000-90588800	Weak transcription	Fetal Heart	heart
9	chr5:90586000-90592000	Weak transcription	Right Atrium	heart
10	chr5:90586800-90588400	Enhancers	K562	blood
11	chr5:90587000-90589800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:90587200-90589200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:90587200-90589400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:90587200-90590400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:90587400-90589800	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr5:90587600-90589000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:90587800-90589800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:90587800-90589800	Enhancers	HSMMtube	muscle
19	chr5:90588000-90589000	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr5:90588000-90589000	Weak transcription	Fetal Thymus	thymus
21	chr5:90588000-90589400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr5:90588000-90589400	Enhancers	GM12878-XiMat	blood
23	chr5:90588000-90589800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:90588200-90588400	Enhancers	Thymus	Thymus
25	chr5:90588200-90590000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr5:90588200-90590400	Enhancers	Dnd41	blood
27	chr5:90588200-90592400	Weak transcription	Primary neutrophils fromperipheralblood	blood

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