Variant report

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10779436	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10863615	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10863617	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10863629	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10863632	0.82[ASN][1000 genomes]
rs12043747	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12134883	1.00[JPT][hapmap]
rs12561905	0.86[ASN][1000 genomes]
rs12563088	0.82[ASN][1000 genomes]
rs1380253	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1459229	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1599083	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1599091	0.88[ASN][1000 genomes]
rs1858566	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1993631	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2002536	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4846346	0.96[ASN][1000 genomes]
rs4846716	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs5012024	0.84[ASN][1000 genomes]
rs61817016	0.94[ASN][1000 genomes]
rs6688088	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6699330	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6701815	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9659064	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9662092	0.82[ASN][1000 genomes]
rs9728318	0.84[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	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6663387	TGFB2	cis	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221615600-221635000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:221622600-221630000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr1:221623200-221631000	Weak transcription	Colon Smooth Muscle	Colon
4	chr1:221623600-221630600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:221623800-221631600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:221628200-221631000	Weak transcription	Psoas Muscle	Psoas
7	chr1:221628200-221631800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:221629800-221633200	Enhancers	Fetal Lung	lung

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