Variant report

Variant	rs12545517
Chromosome Location	chr8:35341362-35341363
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10099855	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10102863	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10111986	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10112860	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10216851	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10503980	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12334629	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12334687	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12541423	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12544168	0.84[EUR][1000 genomes]
rs12544701	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12546560	0.85[ASN][1000 genomes]
rs12546786	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12547584	0.85[ASN][1000 genomes]
rs12550037	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13250198	0.85[ASN][1000 genomes]
rs1371150	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1439149	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1439150	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1439159	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16884019	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16884041	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16884099	0.82[EUR][1000 genomes]
rs16884109	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1837346	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1837348	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1992251	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1992252	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2053340	0.84[EUR][1000 genomes]
rs2053342	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35827990	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs41360948	0.84[EUR][1000 genomes]
rs41409549	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4237083	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4237084	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4302835	0.83[EUR][1000 genomes]
rs4361760	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4389936	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4481589	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4529455	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4577954	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4579522	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4739306	0.85[ASN][1000 genomes]
rs4739409	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4739412	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58417870	0.83[EUR][1000 genomes]
rs59091238	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6980691	0.85[ASN][1000 genomes]
rs6988474	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6990960	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6991528	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6992105	0.84[EUR][1000 genomes]
rs6997313	0.85[ASN][1000 genomes]
rs7001739	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7002810	0.84[EUR][1000 genomes]
rs7002972	0.84[EUR][1000 genomes]
rs7011885	0.84[EUR][1000 genomes]
rs73571880	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7818666	0.85[ASN][1000 genomes]
rs7829642	0.84[EUR][1000 genomes]
rs7845667	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs953345	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs953346	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs953347	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9656746	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs983271	0.85[ASN][1000 genomes]
rs983272	0.85[ASN][1000 genomes]
rs983273	0.85[ASN][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	nsv1017085	chr8:34742896-35594241	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv539546	chr8:34742896-35594241	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv520421	chr8:35155517-35479468	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1024397	chr8:35296922-35424277	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 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	chr8:35332800-35343600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr8:35333000-35343200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:35340800-35341800	Enhancers	Fetal Heart	heart

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