Variant report

Variant	rs4916857
Chromosome Location	chr5:90601089-90601090
allele	C/T
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:90600240..90601838-chr5:90603376..90605549,2	K562	blood:
2	chr5:90596993..90603089-chr5:90675309..90679333,6	MCF-7	breast:
3	chr5:90590416..90593058-chr5:90599643..90601505,2	K562	blood:
4	chr5:90600132..90605007-chr5:90674988..90680589,6	K562	blood:
5	chr5:90600628..90605200-chr5:90606247..90608761,5	K562	blood:
6	chr5:90600532..90604276-chr5:90606355..90609607,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARRDC3-1	chr5:90599690-90606849	XLOC_004924

No data

Variant related genes	Relation type
ENSG00000248323	Chromatin interaction
ENSG00000113369	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10057046	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10462494	0.95[ASN][1000 genomes]
rs10462495	0.95[ASN][1000 genomes]
rs13356765	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2048453	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2048454	0.90[CEU][hapmap];0.85[CHB][hapmap];1.00[TSI][hapmap]
rs2137007	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2973460	0.81[CEU][hapmap]
rs4916706	0.81[CEU][hapmap];0.85[CHB][hapmap]
rs4916707	0.85[CHB][hapmap]
rs4916853	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]
rs4916854	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6865066	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6865269	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.95[ASN][1000 genomes]
rs6877420	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6880312	0.95[ASN][1000 genomes]
rs7341005	0.81[CEU][hapmap]
rs7704529	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7705128	0.85[CHB][hapmap]
rs7712260	0.90[CEU][hapmap];0.92[TSI][hapmap]
rs7721772	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7727557	0.95[ASN][1000 genomes]
rs7732832	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.85[TSI][hapmap];0.98[ASN][1000 genomes]
rs9293562	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9293564	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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:36 , 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	chr5:90593000-90601200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:90593000-90602400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr5:90593000-90606400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:90593000-90607000	Weak transcription	Left Ventricle	heart
6	chr5:90593000-90607000	Weak transcription	HSMMtube	muscle
7	chr5:90593200-90601800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr5:90593200-90601800	Weak transcription	HMEC	breast
9	chr5:90594000-90601200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr5:90597800-90602200	Weak transcription	Osteobl	bone
11	chr5:90597800-90602400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:90598000-90601200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:90598000-90601200	Weak transcription	Psoas Muscle	Psoas
14	chr5:90598000-90602600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:90598000-90602600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr5:90598000-90606800	Weak transcription	Adipose Nuclei	Adipose
17	chr5:90598000-90607000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr5:90598400-90601800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr5:90598400-90602400	Weak transcription	Right Atrium	heart
20	chr5:90598400-90603600	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr5:90598400-90606000	Weak transcription	Primary B cells from cord blood	blood
22	chr5:90598800-90601800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:90599000-90601400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:90599000-90601400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr5:90599000-90601600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:90599000-90601600	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr5:90599000-90602000	Weak transcription	NHDF-Ad	bronchial
28	chr5:90599000-90607200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr5:90599200-90601200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr5:90599200-90601400	Weak transcription	A549	lung
31	chr5:90599600-90601600	Weak transcription	Hela-S3	cervix
32	chr5:90600000-90601600	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr5:90600400-90607000	Weak transcription	Brain Hippocampus Middle	brain
34	chr5:90600600-90601600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr5:90600800-90601200	Weak transcription	Brain Substantia Nigra	brain
36	chr5:90600800-90607200	Weak transcription	Brain Inferior Temporal Lobe	brain

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