Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:53433491..53436451-chr13:53545366..53547312,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11617841	0.84[CEU][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes]
rs11618509	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11618738	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1323112	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1555559	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1578872	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34858262	0.80[EUR][1000 genomes]
rs35082723	0.80[EUR][1000 genomes]
rs6561700	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6561701	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6561702	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7319859	0.80[EUR][1000 genomes]
rs7320575	0.80[EUR][1000 genomes]
rs7321464	0.80[EUR][1000 genomes]
rs7326351	0.80[EUR][1000 genomes]
rs7327967	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9316600	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9316602	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9536322	0.82[EUR][1000 genomes]
rs9536327	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9568783	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9568784	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9568785	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9596733	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs986338	0.93[AMR][1000 genomes];0.93[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	nsv530719	chr13:53173014-53675953	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv3440613	chr13:53307609-53671072	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv832613	chr13:53524319-53687188	Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7996239	CCDC70	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53539200-53553200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr13:53544000-53549000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr13:53544800-53551200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr13:53545600-53546600	Enhancers	Fetal Brain Female	brain

Quick Search: