Variant report

Variant	rs6023219
Chromosome Location	chr20:53026091-53026092
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:53012918..53016705-chr20:53024723..53027233,3	MCF-7	breast:
2	chr20:53019454..53021882-chr20:53023478..53026443,2	MCF-7	breast:
3	chr20:53024747..53028563-chr20:53034818..53037384,3	MCF-7	breast:
4	chr11:45927481..45930369-chr20:53023684..53026134,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255498	Chromatin interaction
ENSG00000234776	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1321466	1.00[EUR][1000 genomes]
rs1321467	1.00[EUR][1000 genomes]
rs1812372	1.00[EUR][1000 genomes]
rs28578506	0.86[EUR][1000 genomes]
rs28662069	1.00[EUR][1000 genomes]
rs6014000	1.00[EUR][1000 genomes]
rs6014001	1.00[EUR][1000 genomes]
rs6014002	1.00[EUR][1000 genomes]
rs6014008	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6014009	1.00[EUR][1000 genomes]
rs6014010	1.00[EUR][1000 genomes]
rs6014012	1.00[EUR][1000 genomes]
rs6023149	0.86[EUR][1000 genomes]
rs6023150	1.00[EUR][1000 genomes]
rs6023190	1.00[EUR][1000 genomes]
rs6023194	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6023195	1.00[EUR][1000 genomes]
rs6023196	1.00[EUR][1000 genomes]
rs6023204	1.00[EUR][1000 genomes]
rs6023206	1.00[EUR][1000 genomes]
rs6023208	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6023209	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6023212	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6023222	1.00[EUR][1000 genomes]
rs6023223	1.00[EUR][1000 genomes]
rs6023224	1.00[EUR][1000 genomes]
rs6023225	1.00[EUR][1000 genomes]
rs6023226	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6091866	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6091868	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6091869	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6091870	1.00[EUR][1000 genomes]
rs6091873	1.00[EUR][1000 genomes]
rs6091880	1.00[EUR][1000 genomes]
rs6091881	0.86[EUR][1000 genomes]
rs6097956	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6097968	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6097969	1.00[EUR][1000 genomes]
rs6097970	1.00[EUR][1000 genomes]
rs6097976	1.00[EUR][1000 genomes]
rs6097977	1.00[EUR][1000 genomes]
rs73273209	1.00[EUR][1000 genomes]
rs7343545	1.00[EUR][1000 genomes]
rs8114344	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[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	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases
2	nsv834011	chr20:52858341-53086042	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
3	nsv834012	chr20:52921007-53097177	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:53025200-53027000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr20:53025400-53026600	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr20:53025800-53026400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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