Variant report

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10005042	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10010642	0.88[EUR][1000 genomes]
rs10029180	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10518355	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11941471	1.00[ASN][1000 genomes]
rs13434556	0.87[EUR][1000 genomes]
rs1396533	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1554730	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs17315319	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28446046	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28472543	0.87[EUR][1000 genomes]
rs28503893	0.87[EUR][1000 genomes]
rs28624642	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28634547	0.87[EUR][1000 genomes]
rs28729575	0.85[EUR][1000 genomes]
rs28749277	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6534179	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6856851	0.87[EUR][1000 genomes]
rs6856905	0.87[EUR][1000 genomes]
rs9684604	1.00[ASN][1000 genomes]
rs9991289	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007641	chr4:120884220-121555889	Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv537234	chr4:120884220-121555889	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv595333	chr4:121093248-121440368	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1005240	chr4:121093285-121420997	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv879852	chr4:121108734-121768496	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1526324	SYNPO2	cis	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121225000-121226200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr4:121225200-121226200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr4:121225200-121226400	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr4:121225200-121226800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr4:121225400-121225800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr4:121225400-121226000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr4:121225400-121226600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr4:121225600-121226200	Enhancers	Fetal Lung	lung
9	chr4:121225600-121226600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:121225600-121226600	Enhancers	Osteobl	bone
11	chr4:121225600-121226800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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