Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:220862132..220866220-chr1:220920879..220923309,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000117791	Chromatin interaction

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

rs_ID	r²[population]
rs12032280	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12410279	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12563921	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1472253	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs337163	0.81[EUR][1000 genomes]
rs337166	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs337167	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs337168	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs337174	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs337182	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs337192	0.81[EUR][1000 genomes]
rs3806329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs382451	0.83[EUR][1000 genomes]
rs4846658	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59423796	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61830219	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61830238	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6689349	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72629673	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs774139	0.83[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	nsv468194	chr1:220845610-220885612	Bivalent Enhancer Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv549227	chr1:220845610-220885612	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv2754270	chr1:220850116-220929155	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr1:220854600-220863200	Weak transcription	Esophagus	oesophagus
2	chr1:220858600-220863000	Weak transcription	Left Ventricle	heart
3	chr1:220858600-220863200	Weak transcription	Adipose Nuclei	Adipose
4	chr1:220861600-220862800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr1:220861600-220863200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:220862600-220863000	Enhancers	Fetal Brain Male	brain
7	chr1:220862600-220863000	Enhancers	Fetal Brain Female	brain
8	chr1:220862600-220863200	Enhancers	Ovary	ovary

Quick Search: