Variant report

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12853985	0.83[EUR][1000 genomes]
rs12875723	0.83[EUR][1000 genomes]
rs1323552	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1323553	0.83[EUR][1000 genomes]
rs2146860	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4608235	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7330127	0.82[EUR][1000 genomes]
rs7332008	0.82[EUR][1000 genomes]
rs7333434	0.83[EUR][1000 genomes]
rs7336022	0.82[EUR][1000 genomes]
rs912278	0.86[CHB][hapmap];0.83[CHD][hapmap];0.89[TSI][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9316409	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9568083	0.83[EUR][1000 genomes]
rs9568084	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9591194	0.83[EUR][1000 genomes]
rs9595960	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9595961	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9595966	0.82[EUR][1000 genomes]
rs9595967	0.82[EUR][1000 genomes]
rs9595972	0.86[CHB][hapmap];0.83[CHD][hapmap];0.87[TSI][hapmap];0.82[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	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
2	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
3	esv2758327	chr13:49283983-49472517	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv2759936	chr13:49283983-49472517	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4620866	MLNR	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49259000-49302200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr13:49279200-49284200	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr13:49279600-49284600	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr13:49281800-49285800	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr13:49282000-49284400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr13:49283200-49285600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr13:49283600-49285200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr13:49284000-49284400	Weak transcription	Dnd41	blood

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