Variant report

Variant	rs2048453
Chromosome Location	chr5:90597737-90597738
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:90596993..90603089-chr5:90675309..90679333,6	MCF-7	breast:
2	chr5:90583980..90586085-chr5:90596174..90598771,2	K562	blood:
3	chr5:90595949..90598196-chr5:90676071..90678555,2	K562	blood:
4	chr5:90589288..90591757-chr5:90597337..90600170,2	MCF-7	breast:
5	chr5:90596065..90598677-chr5:90678888..90680413,2	K562	blood:
6	chr5:90595975..90600023-chr5:90675072..90680413,6	K562	blood:
7	chr5:90592976..90595970-chr5:90596272..90598046,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARRDC3-1	chr5:90597138-90598978	NONHSAT102743

No data

Variant related genes	Relation type
ENSG00000113369	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10057046	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10462494	0.89[ASN][1000 genomes]
rs10462495	0.89[ASN][1000 genomes]
rs13356765	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2137007	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4916853	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4916854	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4916857	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6865066	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6865269	0.89[ASN][1000 genomes]
rs6877420	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6880312	0.89[ASN][1000 genomes]
rs7704529	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7721772	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7727557	0.89[ASN][1000 genomes]
rs7732832	0.92[ASN][1000 genomes]
rs9293562	0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs9293564	0.98[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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90589800-90607400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:90592800-90598200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:90593000-90597800	Weak transcription	Brain Anterior Caudate	brain
4	chr5:90593000-90597800	Weak transcription	Right Atrium	heart
5	chr5:90593000-90598400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr5:90593000-90601200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr5:90593000-90602400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr5:90593000-90606400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr5:90593000-90607000	Weak transcription	Left Ventricle	heart
10	chr5:90593000-90607000	Weak transcription	HSMMtube	muscle
11	chr5:90593200-90601800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr5:90593200-90601800	Weak transcription	HMEC	breast
13	chr5:90594000-90601200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr5:90595200-90598400	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr5:90596200-90599000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:90596600-90598000	Enhancers	Placenta	Placenta
17	chr5:90597000-90597800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr5:90597000-90598000	Enhancers	Muscle Satellite Cultured Cells	--
19	chr5:90597000-90598000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:90597000-90598600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:90597000-90599600	Enhancers	Hela-S3	cervix
22	chr5:90597200-90597800	Enhancers	Osteobl	bone
23	chr5:90597200-90598000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:90597200-90598000	Enhancers	Adipose Nuclei	Adipose
25	chr5:90597200-90598000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr5:90597200-90599000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr5:90597200-90599000	Enhancers	NHDF-Ad	bronchial
28	chr5:90597400-90598600	Enhancers	Brain Substantia Nigra	brain
29	chr5:90597600-90598200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr5:90597600-90598800	Weak transcription	A549	lung
31	chr5:90597600-90599000	Enhancers	Monocytes-CD14+_RO01746	blood

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