Variant report

Variant	rs12519113
Chromosome Location	chr5:164678939-164678940
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10064661	0.81[CEU][hapmap];0.89[ASN][1000 genomes]
rs10866752	1.00[CEU][hapmap]
rs11135358	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11747004	0.90[ASN][1000 genomes]
rs12519127	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13165528	0.81[AFR][1000 genomes]
rs1368423	0.84[CEU][hapmap]
rs1469062	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1578900	0.97[ASN][1000 genomes]
rs1895292	0.85[EUR][1000 genomes]
rs2052513	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2052514	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs253537	0.82[EUR][1000 genomes]
rs253544	0.85[EUR][1000 genomes]
rs3095951	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35665300	0.88[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs4130573	0.97[ASN][1000 genomes]
rs4130574	0.97[ASN][1000 genomes]
rs4367315	0.82[ASN][1000 genomes]
rs6556813	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528624	chr5:164319435-164701201	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1027138	chr5:164563093-164852655	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv537937	chr5:164563093-164852655	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1028006	chr5:164563293-164852516	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv537938	chr5:164563293-164852516	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1027103	chr5:164606534-164694498	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv526419	chr5:164675241-164755174	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:164678800-164679200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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