Variant report

Variant	rs2485483
Chromosome Location	chr13:38538217-38538218
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	chr13:38532991..38535686-chr13:38536250..38538995,2	K562	blood:
2	chr13:38531197..38532873-chr13:38538137..38539849,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs12429858	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1337594	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1337595	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1337605	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1415599	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1415628	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1556781	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1591672	0.84[EUR][1000 genomes]
rs2095673	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2210979	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2250286	0.80[EUR][1000 genomes]
rs2485286	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2485291	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2485298	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2485495	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2485497	0.84[EUR][1000 genomes]
rs2485501	0.84[EUR][1000 genomes]
rs2786638	0.82[AMR][1000 genomes]
rs34544559	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6563572	0.81[EUR][1000 genomes]
rs6563573	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6563574	0.81[EUR][1000 genomes]
rs71423167	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7322764	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7327323	0.87[ASN][1000 genomes]
rs7336052	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7992543	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7994671	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7994826	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs817729	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs945859	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9566279	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9576402	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9576405	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9576406	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9576414	0.84[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	nsv915901	chr13:38199035-39032633	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv899996	chr13:38459224-38577056	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv899998	chr13:38480878-38582178	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr13:38535400-38539600	Weak transcription	K562	blood
2	chr13:38538000-38539200	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr13:38538200-38539000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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