Variant report

Variant	rs2599503
Chromosome Location	chr5:16012917-16012918
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10051749	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10055882	0.90[ASN][1000 genomes]
rs10076986	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11133826	0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12655516	0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1393266	0.88[ASN][1000 genomes]
rs1502027	0.98[ASN][1000 genomes]
rs168747	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs181833	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs250489	0.83[ASN][1000 genomes]
rs250490	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs250496	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs250497	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs250501	0.91[ASN][1000 genomes]
rs250503	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs250504	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs250505	0.98[ASN][1000 genomes]
rs32823	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs32824	0.91[ASN][1000 genomes]
rs32825	0.91[ASN][1000 genomes]
rs32827	0.97[ASN][1000 genomes]
rs32828	0.97[ASN][1000 genomes]
rs32829	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32830	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4701645	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4701646	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4702120	0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6859383	0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830216	chr5:15860662-16060420	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
2	nsv427712	chr5:15883439-16055856	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv830217	chr5:16004704-16225229	Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv1825549	chr5:16006008-16031799	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16011400-16013000	Weak transcription	Fetal Heart	heart
2	chr5:16012800-16013200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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