Variant report

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10040118	0.86[ASN][1000 genomes]
rs10044764	0.86[ASN][1000 genomes]
rs10053477	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10062218	0.85[ASN][1000 genomes]
rs10070510	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10073602	0.85[ASN][1000 genomes]
rs10077056	0.88[ASN][1000 genomes]
rs10477688	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10478817	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10520005	0.80[CHB][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs12386502	0.86[ASN][1000 genomes]
rs12515907	0.86[ASN][1000 genomes]
rs17211718	0.81[ASN][1000 genomes]
rs4355567	0.88[ASN][1000 genomes]
rs4382207	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56119036	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56270098	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59001046	0.85[ASN][1000 genomes]
rs6870036	0.84[ASN][1000 genomes]
rs73784408	0.86[ASN][1000 genomes]
rs7729188	0.85[ASN][1000 genomes]
rs9327481	0.86[ASN][1000 genomes]
rs9327482	0.88[ASN][1000 genomes]
rs9327483	0.81[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	nsv427734	chr5:127805281-128088632	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv830484	chr5:127936347-128087308	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1023405	chr5:127955360-128190069	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv882836	chr5:127999225-128136519	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs10064348	FBN2	cis	Thyroid	GTEx
rs10064348	FBN2	cis	lung	GTEx
rs10064348	FBN2	cis	Nerve Tibial	GTEx
rs10064348	FBN2	cis	Artery Tibial	GTEx
rs10064348	FBN2	cis	Whole Blood	GTEx

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:128006400-128008400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:128007000-128010600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr5:128007000-128018600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:128007200-128010600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr5:128007600-128009200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:128007600-128010000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr5:128007600-128010600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr5:128007800-128008600	Enhancers	H1 Cell Line	embryonic stem cell
9	chr5:128007800-128008600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:128007800-128010400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:128007800-128010600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr5:128008000-128008400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:128008000-128010400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr5:128008000-128010600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr5:128008200-128008600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

Quick Search: