Variant report

Variant	rs4916855
Chromosome Location	chr5:90596345-90596346
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:90583980..90586085-chr5:90596174..90598771,2	K562	blood:
2	chr5:90595949..90598196-chr5:90676071..90678555,2	K562	blood:
3	chr5:90596065..90598677-chr5:90678888..90680413,2	K562	blood:
4	chr5:90595975..90600023-chr5:90675072..90680413,6	K562	blood:
5	chr5:90595076..90597683-chr5:90606068..90607704,2	MCF-7	breast:
6	chr5:90592976..90595970-chr5:90596272..90598046,2	K562	blood:

Variant related genes	Relation type
ENSG00000113369	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10038890	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10050517	0.83[ASN][1000 genomes]
rs10434640	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12697808	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4639266	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4916856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4916858	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4916859	0.86[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:28 , 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	chr5:90593000-90596600	Weak transcription	Placenta	Placenta
4	chr5:90593000-90597200	Weak transcription	Adipose Nuclei	Adipose
5	chr5:90593000-90597800	Weak transcription	Brain Anterior Caudate	brain
6	chr5:90593000-90597800	Weak transcription	Right Atrium	heart
7	chr5:90593000-90598400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr5:90593000-90601200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr5:90593000-90602400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr5:90593000-90606400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:90593000-90607000	Weak transcription	Left Ventricle	heart
12	chr5:90593000-90607000	Weak transcription	HSMMtube	muscle
13	chr5:90593200-90597000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr5:90593200-90597200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:90593200-90597200	Weak transcription	A549	lung
16	chr5:90593200-90601800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr5:90593200-90601800	Weak transcription	HMEC	breast
18	chr5:90593400-90597000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr5:90593400-90597000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:90593400-90597200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:90593400-90597200	Weak transcription	Osteobl	bone
22	chr5:90594000-90601200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr5:90594200-90597000	Weak transcription	Hela-S3	cervix
24	chr5:90594400-90597200	Weak transcription	NHDF-Ad	bronchial
25	chr5:90595200-90598400	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr5:90595400-90597600	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr5:90595600-90597200	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr5:90596200-90599000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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