Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:29522234..29525588-chr18:29534457..29537204,4	MCF-7	breast:
2	chr18:29531400..29532947-chr18:29534853..29537297,2	K562	blood:

Variant related genes	Relation type
ENSG00000153339	Chromatin interaction
ENSG00000263823	Chromatin interaction

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11659714	0.84[EUR][1000 genomes]
rs12326193	0.87[EUR][1000 genomes]
rs12954934	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12965971	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2009538	0.97[ASN][1000 genomes]
rs2162378	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2421178	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28639693	0.87[EUR][1000 genomes]
rs4344833	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61736627	0.86[EUR][1000 genomes]
rs62093904	0.86[EUR][1000 genomes]
rs7504605	0.97[ASN][1000 genomes]
rs7504671	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8097835	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8098465	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs972358	0.97[ASN][1000 genomes]
rs974124	0.97[ASN][1000 genomes]
rs9949272	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9950155	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9950809	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][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	nsv1067252	chr18:29475073-29583744	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1065285	chr18:29527884-29614986	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29525600-29537400	Weak transcription	Duodenum Mucosa	Duodenum
2	chr18:29531400-29536800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr18:29533600-29535200	Enhancers	Fetal Intestine Small	intestine
4	chr18:29533800-29535200	Enhancers	Liver	Liver
5	chr18:29534400-29535200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr18:29534400-29535200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr18:29534400-29537400	Weak transcription	Fetal Intestine Large	intestine
8	chr18:29534800-29536400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr18:29534800-29536800	Weak transcription	HepG2	liver
10	chr18:29534800-29537200	Weak transcription	Hela-S3	cervix
11	chr18:29535000-29536600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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