Variant report

No.	Distal block	Cell Line	Cell type
1	chr18:45457936..45459581-chr18:45522909..45525211,2	K562	blood:
2	chr18:45456711..45459581-chr18:45522909..45525211,3	K562	blood:
3	chr18:45457637..45459201-chr18:45523865..45526054,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175387	Chromatin interaction

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11660291	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11661805	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12454831	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12456505	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12458978	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12959163	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12971176	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13381433	0.81[AMR][1000 genomes]
rs17885999	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34380210	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36033209	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55670531	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61022371	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs62087556	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62087557	0.80[ASN][1000 genomes]
rs7236676	0.97[ASN][1000 genomes]
rs7504201	0.80[AMR][1000 genomes]
rs7504245	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9948382	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9950547	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9967472	0.81[AMR][1000 genomes];0.84[ASN][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	nsv909616	chr18:45467806-45844500	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1066479	chr18:45505569-45554507	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1055669	chr18:45513090-45559375	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45516200-45527600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr18:45517600-45529000	Weak transcription	Right Ventricle	heart
3	chr18:45520400-45529600	Weak transcription	Stomach Mucosa	stomach
4	chr18:45521200-45526200	Weak transcription	Hela-S3	cervix
5	chr18:45524000-45525200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr18:45524200-45529000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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