Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112690790..112692381-chr5:112700425..112702071,2	K562	blood:

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

rs_ID	r²[population]
rs10037429	0.89[YRI][hapmap]
rs11948187	0.94[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11948413	0.84[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11948437	0.95[YRI][hapmap];1.00[AMR][1000 genomes]
rs11948446	0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11948538	0.87[AFR][1000 genomes]
rs11948830	1.00[AMR][1000 genomes]
rs11949669	0.95[YRI][hapmap];1.00[AMR][1000 genomes]
rs11950791	0.89[YRI][hapmap];0.85[AFR][1000 genomes]
rs11952116	0.85[AMR][1000 genomes]
rs11954798	0.84[YRI][hapmap];1.00[AMR][1000 genomes]
rs11955591	0.94[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11956234	1.00[AMR][1000 genomes]
rs11956430	0.85[AMR][1000 genomes]
rs11959532	0.90[AFR][1000 genomes]
rs11959955	1.00[AMR][1000 genomes]
rs13161610	0.94[YRI][hapmap]
rs13161969	0.93[YRI][hapmap]
rs182988	0.89[YRI][hapmap]
rs34086862	1.00[AMR][1000 genomes]
rs4398627	0.83[YRI][hapmap]
rs461034	0.94[YRI][hapmap]
rs57113080	0.83[AMR][1000 genomes]
rs61341835	1.00[AMR][1000 genomes]
rs6878004	0.83[AMR][1000 genomes]
rs7731164	0.94[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][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	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv882719	chr5:112568212-112706511	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv949165	chr5:112615626-112730216	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112667200-112693400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:112682000-112700000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:112689000-112693200	Weak transcription	Left Ventricle	heart
4	chr5:112690000-112693400	Weak transcription	Fetal Heart	heart
5	chr5:112690200-112693200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:112690200-112693800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:112690200-112695400	Weak transcription	HMEC	breast
8	chr5:112690200-112700000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

Quick Search: