Variant report

Variant	rs4916854
Chromosome Location	chr5:90590473-90590474
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:90584273..90591126-chr5:90674763..90680414,9	K562	blood:
2	chr5:90587280..90591126-chr5:90675107..90680453,11	K562	blood:
3	chr5:90590416..90593058-chr5:90599643..90601505,2	K562	blood:
4	chr5:90589288..90591757-chr5:90597337..90600170,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000113369	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10057046	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13356765	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2048453	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2048454	0.82[EUR][1000 genomes]
rs2137007	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4916853	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4916857	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6865066	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6877420	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7704529	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7721772	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7732832	0.83[ASN][1000 genomes]
rs9293562	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9293564	0.91[EUR][1000 genomes];0.84[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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90585000-90592000	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr5:90586000-90592000	Weak transcription	Right Atrium	heart
3	chr5:90588200-90592400	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr5:90588800-90591200	Enhancers	Hela-S3	cervix
5	chr5:90589200-90591800	Weak transcription	NHDF-Ad	bronchial
6	chr5:90589200-90592600	Weak transcription	Left Ventricle	heart
7	chr5:90589400-90591000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:90589400-90591800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:90589400-90592200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr5:90589400-90592400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:90589400-90592400	Weak transcription	NH-A	brain
12	chr5:90589400-90593800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr5:90589600-90590600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr5:90589600-90591800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:90589600-90592400	Weak transcription	Fetal Heart	heart
16	chr5:90589600-90593800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr5:90589800-90591600	Weak transcription	Placenta	Placenta
18	chr5:90589800-90591600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr5:90589800-90592200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:90589800-90592200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr5:90589800-90592400	Weak transcription	A549	lung
22	chr5:90589800-90592400	Weak transcription	HSMMtube	muscle
23	chr5:90589800-90607400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr5:90590200-90592600	Weak transcription	Fetal Thymus	thymus
25	chr5:90590400-90592400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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