Variant report

Variant	rs55939627
Chromosome Location	chr1:223659187-223659188
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	chr1:223650833..223653582-chr1:223658153..223659681,2	K562	blood:
2	chr1:223657800..223659380-chr1:223659500..223662411,2	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12136518	0.88[ASN][1000 genomes]
rs12403119	0.83[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs12408545	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12409225	0.83[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs12411081	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12732440	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs12735811	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs12752130	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12760595	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34285879	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs34766468	0.94[ASN][1000 genomes]
rs35219153	0.94[ASN][1000 genomes]
rs36046682	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3935463	0.88[ASN][1000 genomes]
rs4353087	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4402119	0.93[ASN][1000 genomes]
rs4606305	0.93[ASN][1000 genomes]
rs56170942	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56296308	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59248273	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61366469	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6604718	0.90[ASN][1000 genomes]
rs6604721	0.94[ASN][1000 genomes]
rs6660728	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6667089	0.94[ASN][1000 genomes]
rs6676169	0.87[ASN][1000 genomes]
rs6676669	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6684384	0.84[ASN][1000 genomes]
rs72745975	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72745981	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7517145	0.93[ASN][1000 genomes]
rs7549968	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832670	chr1:223561771-223683381	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1013538	chr1:223626487-223670776	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223653200-223660800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:223654200-223661000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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