Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:80025882..80028470-chr13:80030398..80033837,6	K562	blood:
2	chr13:80032232..80034241-chr13:80043610..80045706,2	K562	blood:

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

rs_ID	r²[population]
rs1335372	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1410334	0.93[EUR][1000 genomes]
rs1410335	0.93[EUR][1000 genomes]
rs17071499	0.82[EUR][1000 genomes]
rs41288268	0.82[EUR][1000 genomes]
rs41305026	0.86[EUR][1000 genomes]
rs58069884	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58264675	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59319360	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs59755477	0.85[EUR][1000 genomes]
rs7139902	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7318984	0.82[EUR][1000 genomes]
rs7325970	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7329633	0.89[EUR][1000 genomes]
rs7330804	0.82[EUR][1000 genomes]
rs73548951	0.82[EUR][1000 genomes]
rs73548955	0.82[EUR][1000 genomes]
rs73551558	0.82[EUR][1000 genomes]
rs7491258	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7983312	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7984159	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7984598	0.92[AMR][1000 genomes]
rs7985220	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7985697	0.82[EUR][1000 genomes]
rs7995717	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8000870	0.82[EUR][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	nsv832657	chr13:79904978-80099108	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv523979	chr13:79979679-80120263	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 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	chr13:80020600-80034000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr13:80030400-80033800	Weak transcription	HSMM	muscle
3	chr13:80032000-80034400	Enhancers	NHEK	skin
4	chr13:80032800-80033800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr13:80032800-80034200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr13:80033200-80033800	Weak transcription	K562	blood
7	chr13:80033400-80034200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr13:80033400-80034400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr13:80033600-80034200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr13:80033600-80034200	Enhancers	NH-A	brain
11	chr13:80033600-80034200	Enhancers	Osteobl	bone
12	chr13:80033600-80034400	Enhancers	HMEC	breast

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