Variant report

Variant	rs59654143
Chromosome Location	chr3:119287791-119287792
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:119287118..119288876-chr3:119295967..119300042,3	MCF-7	breast:
2	chr3:119273694..119275953-chr3:119287786..119289362,2	K562	blood:

Variant related genes	Relation type
ENSG00000272967	Chromatin interaction
ENSG00000144843	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11533815	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11543525	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16829988	0.81[AMR][1000 genomes]
rs1852212	0.81[AMR][1000 genomes]
rs2019144	0.81[AMR][1000 genomes]
rs34394661	0.81[AMR][1000 genomes]
rs3915165	0.81[AMR][1000 genomes]
rs3915166	0.81[AMR][1000 genomes]
rs41271393	0.81[AMR][1000 genomes]
rs55758148	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55772114	0.81[AMR][1000 genomes]
rs56025972	0.81[ASN][1000 genomes]
rs56078908	0.81[AMR][1000 genomes]
rs56086928	0.81[AMR][1000 genomes]
rs56213221	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57339072	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59374417	0.81[AMR][1000 genomes]
rs59762006	0.81[AMR][1000 genomes]
rs59764999	0.82[EUR][1000 genomes]
rs59775555	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61692996	0.81[AMR][1000 genomes]
rs61702127	0.81[AMR][1000 genomes]
rs66797637	0.81[AMR][1000 genomes]
rs68180496	0.81[AMR][1000 genomes]
rs762629	0.81[AMR][1000 genomes]
rs762631	0.81[AMR][1000 genomes]
rs867234	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv829695	chr3:119178890-119367996	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv1831824	chr3:119263607-119402474	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv523837	chr3:119278848-119288848	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs59654143	CD80	cis	Muscle Skeletal	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119267600-119298000	Weak transcription	Fetal Lung	lung
2	chr3:119287400-119288200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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