Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:51216555..51218966-chr13:51222987..51226274,3	K562	blood:

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

rs_ID	r²[population]
rs1341633	0.89[EUR][1000 genomes]
rs1861297	0.89[EUR][1000 genomes]
rs2039100	0.90[EUR][1000 genomes]
rs2039101	0.89[EUR][1000 genomes]
rs2110763	0.87[EUR][1000 genomes]
rs2192800	0.88[EUR][1000 genomes]
rs2192801	0.89[EUR][1000 genomes]
rs3905103	0.85[CEU][hapmap];0.89[EUR][1000 genomes]
rs4942932	0.89[EUR][1000 genomes]
rs4942933	0.90[EUR][1000 genomes]
rs630062	0.91[EUR][1000 genomes]
rs706596	0.93[EUR][1000 genomes]
rs7325508	0.89[EUR][1000 genomes]
rs7325674	0.89[EUR][1000 genomes]
rs7327141	0.89[EUR][1000 genomes]
rs7328789	0.86[EUR][1000 genomes]
rs7333895	0.89[EUR][1000 genomes]
rs7334876	0.89[EUR][1000 genomes]
rs7338717	0.82[EUR][1000 genomes]
rs797479	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs797481	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs797483	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs797485	0.97[EUR][1000 genomes]
rs797532	0.93[EUR][1000 genomes]
rs9526681	0.86[EUR][1000 genomes]
rs9526684	0.89[EUR][1000 genomes]
rs9526685	0.89[EUR][1000 genomes]
rs9535472	0.85[CEU][hapmap];0.89[GIH][hapmap];0.91[TSI][hapmap];0.91[EUR][1000 genomes]
rs9535473	0.85[CEU][hapmap];0.89[GIH][hapmap];0.91[TSI][hapmap];0.89[YRI][hapmap];0.90[EUR][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	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription 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	1256 gene(s)	inside rSNPs	diseases
2	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753864	chr13:51136699-51375199	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51220400-51239400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:51220600-51224800	Weak transcription	Osteobl	bone
3	chr13:51220600-51225000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr13:51220600-51225000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr13:51220600-51225000	Weak transcription	NH-A	brain
6	chr13:51223800-51227400	Enhancers	Thymus	Thymus
7	chr13:51223800-51227600	Enhancers	Fetal Thymus	thymus
8	chr13:51224000-51225000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr13:51224200-51225000	Enhancers	Dnd41	blood
10	chr13:51224200-51225600	Enhancers	Primary T cells from cord blood	blood

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