Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30251842..30253597-chr13:30255300..30256996,2	K562	blood:

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

rs_ID	r²[population]
rs1023162	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1023163	0.93[ASN][1000 genomes]
rs1093774	0.93[ASN][1000 genomes]
rs12428341	0.90[ASN][1000 genomes]
rs2234417	1.00[CHB][hapmap]
rs2388240	0.90[ASN][1000 genomes]
rs2669033	0.86[ASN][1000 genomes]
rs280920	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs280921	0.93[ASN][1000 genomes]
rs280948	0.97[ASN][1000 genomes]
rs280957	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs280959	0.94[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs280960	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35803474	0.83[ASN][1000 genomes]
rs542930	0.90[ASN][1000 genomes]
rs547522	0.86[ASN][1000 genomes]
rs563819	0.93[ASN][1000 genomes]
rs566688	0.97[ASN][1000 genomes]
rs598281	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs73157112	0.81[ASN][1000 genomes]
rs7326804	0.81[ASN][1000 genomes]
rs819102	0.93[ASN][1000 genomes]
rs819104	0.97[ASN][1000 genomes]
rs943564	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899961	chr13:30226924-30407273	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30250000-30256400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr13:30252800-30257600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr13:30252800-30257800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr13:30253000-30256200	Enhancers	Fetal Brain Male	brain
5	chr13:30253800-30256400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr13:30253800-30257200	Weak transcription	NHEK	skin
7	chr13:30254000-30256400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr13:30255000-30262200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr13:30255800-30256200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr13:30255800-30256200	Enhancers	NHDF-Ad	bronchial
11	chr13:30255800-30256400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr13:30255800-30256600	Enhancers	Adipose Nuclei	Adipose

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