Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112781329..112783390-chr5:112851064..112853901,2	K562	blood:
2	chr5:112781505..112783178-chr5:112822081..112824914,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171444	Chromatin interaction

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10037429	0.83[YRI][hapmap]
rs11744710	0.83[YRI][hapmap]
rs11948187	0.82[YRI][hapmap];1.00[EUR][1000 genomes]
rs11948413	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11948437	0.84[YRI][hapmap];1.00[EUR][1000 genomes]
rs11948446	0.94[YRI][hapmap];0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11948538	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11948830	1.00[EUR][1000 genomes]
rs11949387	1.00[EUR][1000 genomes]
rs11949669	0.84[YRI][hapmap];1.00[EUR][1000 genomes]
rs11953559	1.00[EUR][1000 genomes]
rs11953906	0.89[YRI][hapmap];0.85[AFR][1000 genomes]
rs11954798	0.84[YRI][hapmap];1.00[EUR][1000 genomes]
rs11955591	0.94[YRI][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11956234	1.00[EUR][1000 genomes]
rs11956800	1.00[EUR][1000 genomes]
rs11959532	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11959955	1.00[EUR][1000 genomes]
rs13161610	0.94[YRI][hapmap]
rs13161969	0.93[YRI][hapmap]
rs182988	0.89[YRI][hapmap]
rs2914152	0.94[YRI][hapmap]
rs34161832	1.00[EUR][1000 genomes]
rs3763141	0.94[YRI][hapmap]
rs461034	0.94[YRI][hapmap]
rs58548907	1.00[EUR][1000 genomes]
rs59149164	1.00[EUR][1000 genomes]
rs59757131	1.00[EUR][1000 genomes]
rs61341835	1.00[EUR][1000 genomes]
rs7729214	0.86[YRI][hapmap];1.00[EUR][1000 genomes]
rs7731164	0.94[YRI][hapmap];0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112762000-112786000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:112764600-112786400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:112764800-112786800	Weak transcription	NHEK	skin
4	chr5:112770400-112783400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:112770600-112786800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:112780400-112787400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:112781600-112784000	Enhancers	Fetal Heart	heart
8	chr5:112781800-112782600	Enhancers	Dnd41	blood

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