Variant report

Variant	rs600930
Chromosome Location	chr13:54741155-54741156
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs12427903	0.80[AMR][1000 genomes]
rs1334874	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1335976	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1335977	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1335979	0.95[EUR][1000 genomes]
rs1335980	0.93[EUR][1000 genomes]
rs1577576	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1763779	0.92[EUR][1000 genomes]
rs1932503	0.95[EUR][1000 genomes]
rs2005372	0.95[EUR][1000 genomes]
rs2050534	0.93[EUR][1000 genomes]
rs2050535	0.95[EUR][1000 genomes]
rs2050536	0.95[EUR][1000 genomes]
rs2065822	0.82[AMR][1000 genomes]
rs2152503	0.95[EUR][1000 genomes]
rs2184678	0.95[EUR][1000 genomes]
rs2210849	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2408992	0.93[EUR][1000 genomes]
rs2408993	0.95[EUR][1000 genomes]
rs2408994	0.95[EUR][1000 genomes]
rs2408995	0.95[EUR][1000 genomes]
rs2576136	0.82[AMR][1000 genomes]
rs4274311	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4883848	0.95[EUR][1000 genomes]
rs4883850	0.95[EUR][1000 genomes]
rs4884867	0.95[EUR][1000 genomes]
rs5002542	0.95[EUR][1000 genomes]
rs5002543	0.95[EUR][1000 genomes]
rs510147	0.92[EUR][1000 genomes]
rs551408	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs564930	0.95[EUR][1000 genomes]
rs574623	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61956190	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs653228	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6561768	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs657383	0.92[EUR][1000 genomes]
rs667408	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs681704	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs706588	0.98[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7326186	0.89[EUR][1000 genomes]
rs7326388	0.95[EUR][1000 genomes]
rs7329766	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7335075	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7335475	0.95[EUR][1000 genomes]
rs7984593	0.95[EUR][1000 genomes]
rs7985320	0.95[EUR][1000 genomes]
rs7985834	0.96[EUR][1000 genomes]
rs7986212	0.95[EUR][1000 genomes]
rs7991755	0.95[EUR][1000 genomes]
rs7992992	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8001182	0.95[EUR][1000 genomes]
rs878943	0.95[EUR][1000 genomes]
rs9527179	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9536639	0.95[EUR][1000 genomes]
rs9568990	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs988526	0.94[EUR][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	esv3375545	chr13:54517432-54908108	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv561701	chr13:54711276-54826104	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:54722600-54741200	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr13:54736800-54741600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr13:54737200-54746600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr13:54740200-54743800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr13:54740400-54741400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr13:54740400-54744200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr13:54740600-54742000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr13:54741000-54741200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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