Variant report

Variant	rs1833588
Chromosome Location	chr5:88572157-88572158
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12653655	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12654335	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12657507	1.00[AMR][1000 genomes]
rs12657575	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12659254	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1422088	0.94[ASN][1000 genomes]
rs34324795	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs59344477	1.00[AMR][1000 genomes]
rs60081637	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs60218625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6452807	1.00[AMR][1000 genomes]
rs6452810	1.00[AMR][1000 genomes]
rs6886996	1.00[AMR][1000 genomes]
rs6890064	1.00[AMR][1000 genomes]
rs7705947	1.00[AMR][1000 genomes]
rs7711573	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532159	chr5:88016214-88783092	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv533373	chr5:88062497-89028098	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv529543	chr5:88348147-88783092	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv830387	chr5:88547862-88682442	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	3 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	chr5:88561400-88575400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:88565200-88575200	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr5:88567600-88572800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr5:88568000-88572200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:88568000-88575200	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr5:88568600-88575200	Weak transcription	Fetal Heart	heart
7	chr5:88569000-88576400	Enhancers	K562	blood
8	chr5:88569400-88577400	Weak transcription	Fetal Muscle Leg	muscle
9	chr5:88569600-88572400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:88570200-88572400	Weak transcription	HSMMtube	muscle
11	chr5:88570400-88572400	Weak transcription	NHDF-Ad	bronchial
12	chr5:88570800-88574200	Enhancers	NHEK	skin
13	chr5:88571000-88578600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:88571400-88574200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:88571600-88572600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:88571600-88573800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr5:88571600-88574200	Weak transcription	Primary B cells from cord blood	blood
18	chr5:88571600-88574600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr5:88571600-88574800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr5:88571600-88574800	Enhancers	HSMM	muscle
21	chr5:88571800-88572200	Weak transcription	Primary B cells from peripheral blood	blood
22	chr5:88571800-88572600	Enhancers	Muscle Satellite Cultured Cells	--
23	chr5:88572000-88574200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr5:88572000-88574800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:88572000-88574800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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