Variant report

Variant	rs55672258
Chromosome Location	chr20:52590770-52590771
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:52589616..52592279-chr20:52827427..52830367,2	MCF-7	breast:
2	chr20:52585036..52587643-chr20:52590176..52593053,2	K562	blood:
3	chr17:56707307..56709461-chr20:52590173..52592756,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000212195	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1016279	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10485440	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1125895	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12480106	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1477639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2024064	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2024065	0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2108456	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2276494	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2276496	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2276497	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2276502	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2276514	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2302039	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35575210	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs371096	0.83[EUR][1000 genomes]
rs3815270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs431061	0.95[ASN][1000 genomes]
rs55776232	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6013861	0.89[ASN][1000 genomes]
rs6091793	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6091794	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6097716	0.90[EUR][1000 genomes]
rs714514	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7272317	0.83[EUR][1000 genomes]
rs8124068	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[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	esv34060	chr20:52251863-52702186	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	296 gene(s)	inside rSNPs	diseases
2	nsv834009	chr20:52386050-52590795	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	182 gene(s)	inside rSNPs	diseases
3	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

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52566400-52644800	Weak transcription	Gastric	stomach
2	chr20:52570200-52591800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr20:52570200-52592400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr20:52570800-52590800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr20:52576400-52591400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr20:52578400-52591200	Weak transcription	HSMMtube	muscle
7	chr20:52578600-52592400	Weak transcription	Brain Hippocampus Middle	brain
8	chr20:52578800-52591800	Weak transcription	Brain Anterior Caudate	brain
9	chr20:52578800-52592400	Weak transcription	Brain Substantia Nigra	brain
10	chr20:52580800-52600000	Weak transcription	Stomach Mucosa	stomach
11	chr20:52581200-52610600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr20:52589400-52591000	Weak transcription	NHDF-Ad	bronchial

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