Variant report

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10041724	0.88[ASN][1000 genomes]
rs10061263	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10073890	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10074013	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1031207	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11241779	0.89[ASN][1000 genomes]
rs11743521	0.86[ASN][1000 genomes]
rs11743554	0.84[ASN][1000 genomes]
rs11951671	0.89[ASN][1000 genomes]
rs11958289	0.88[ASN][1000 genomes]
rs12109265	0.81[ASN][1000 genomes]
rs1374130	0.81[ASN][1000 genomes]
rs2028854	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35862376	0.88[ASN][1000 genomes]
rs36041674	0.86[ASN][1000 genomes]
rs4240384	0.81[ASN][1000 genomes]
rs4279337	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4311414	0.81[ASN][1000 genomes]
rs4331894	0.81[ASN][1000 genomes]
rs4836131	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6869863	0.87[ASN][1000 genomes]
rs6875187	0.81[ASN][1000 genomes]
rs6875763	0.81[ASN][1000 genomes]
rs6876036	0.81[ASN][1000 genomes]
rs6895658	0.87[ASN][1000 genomes]
rs73782503	0.82[ASN][1000 genomes]
rs7732618	0.81[ASN][1000 genomes]
rs9327340	0.82[ASN][1000 genomes]
rs9968605	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882822	chr5:124250018-124449375	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830474	chr5:124263628-124431299	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv599657	chr5:124284253-124330522	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10057528	ZNF608	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124284200-124301800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:124284800-124294000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr5:124285000-124288800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:124285600-124292000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr5:124286800-124288000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr5:124286800-124288000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr5:124286800-124288000	Flanking Active TSS	GM12878-XiMat	blood
8	chr5:124287000-124288000	Enhancers	Primary B cells from peripheral blood	blood
9	chr5:124287000-124288000	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr5:124287200-124288200	Weak transcription	Primary B cells from cord blood	blood
11	chr5:124287600-124297800	Weak transcription	Adipose Nuclei	Adipose
12	chr5:124287800-124289200	Enhancers	Psoas Muscle	Psoas

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