Variant report

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

rs_ID	r²[population]
rs12583212	0.93[EUR][1000 genomes]
rs12583622	0.93[EUR][1000 genomes]
rs12585234	0.93[EUR][1000 genomes]
rs12865846	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12867110	0.93[EUR][1000 genomes]
rs12867640	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12870838	0.93[EUR][1000 genomes]
rs1326697	0.88[EUR][1000 genomes]
rs1359107	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2148516	0.88[EUR][1000 genomes]
rs34119347	0.93[EUR][1000 genomes]
rs36088391	0.93[EUR][1000 genomes]
rs59136233	0.88[EUR][1000 genomes]
rs7331325	0.89[EUR][1000 genomes]
rs7334400	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7987608	0.93[EUR][1000 genomes]
rs7988330	0.93[EUR][1000 genomes]
rs7989251	0.93[EUR][1000 genomes]
rs9562837	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9562838	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9568067	0.86[EUR][1000 genomes]
rs9568068	0.84[EUR][1000 genomes]
rs9568071	0.86[EUR][1000 genomes]
rs9568075	0.93[EUR][1000 genomes]
rs9568079	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9634815	0.93[EUR][1000 genomes]
rs9634816	0.93[EUR][1000 genomes]
rs9634817	0.89[EUR][1000 genomes]
rs9742182	0.87[EUR][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	nsv832604	chr13:49061081-49281807	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv832605	chr13:49171305-49344970	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv1033	chr13:49241446-49250564	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7982278	ITM2B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49242600-49251000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr13:49247600-49249200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr13:49248200-49252800	Enhancers	Dnd41	blood
4	chr13:49248400-49250200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr13:49248600-49250400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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