Variant report

Variant	rs1148514
Chromosome Location	chr8:103180937-103180938
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10093024	0.84[CEU][hapmap];0.95[CHB][hapmap];0.84[CHD][hapmap];0.86[JPT][hapmap];0.88[TSI][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1037701	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10955282	0.92[ASN][1000 genomes]
rs1111911	0.84[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.88[TSI][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1148515	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1148516	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1148517	0.98[ASN][1000 genomes]
rs1148519	0.94[ASN][1000 genomes]
rs1265119	0.91[ASN][1000 genomes]
rs1265122	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1265124	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13268773	0.88[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1547370	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1892965	0.84[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2051274	0.82[CHB][hapmap]
rs2105615	0.84[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap]
rs2387095	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4291239	0.84[CEU][hapmap];0.95[CHB][hapmap];0.84[CHD][hapmap];0.86[JPT][hapmap];0.88[TSI][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4734053	0.84[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4734616	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62524263	0.88[ASN][1000 genomes]
rs6468817	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6468818	0.84[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6980613	0.84[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.88[TSI][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6982041	0.86[ASN][1000 genomes]
rs6989827	0.95[JPT][hapmap]
rs7000087	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7000803	0.95[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs7819114	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7822831	0.94[JPT][hapmap]
rs7826028	0.84[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9297318	0.95[JPT][hapmap]
rs9942800	0.89[ASN][1000 genomes]
rs9942805	0.86[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	nsv1020359	chr8:103109921-103318415	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1033829	chr8:103110057-103525696	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1021459	chr8:103163436-103401754	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv539701	chr8:103163436-103401754	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103175200-103182400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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