Variant report

Variant	rs12675489
Chromosome Location	chr8:51484871-51484872
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10087387	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10088424	0.92[CHB][hapmap];0.85[JPT][hapmap]
rs10088550	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs10105436	0.86[CHB][hapmap]
rs10106921	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs10107280	1.00[ASW][hapmap];0.85[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.82[YRI][hapmap];0.89[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs10108554	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10110737	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1157348	1.00[JPT][hapmap]
rs11994238	0.92[CHB][hapmap];0.85[JPT][hapmap]
rs12334955	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12677318	0.89[ASW][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12679674	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs1384828	0.92[CHB][hapmap];0.85[JPT][hapmap]
rs1384830	0.92[CHB][hapmap];0.87[CHD][hapmap];0.85[JPT][hapmap]
rs1481474	1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs16915036	1.00[JPT][hapmap]
rs16915079	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs16915100	0.85[CHB][hapmap];0.85[JPT][hapmap];0.83[AMR][1000 genomes]
rs2046355	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap]
rs28412668	0.82[AMR][1000 genomes]
rs28435842	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3849806	0.85[CHB][hapmap];0.85[JPT][hapmap];0.81[AMR][1000 genomes]
rs4873467	0.83[CHB][hapmap];0.85[JPT][hapmap];0.86[AMR][1000 genomes]
rs6473235	0.86[CHB][hapmap]
rs6473239	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs6473247	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6473249	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6473253	0.92[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap]
rs6998737	0.85[CHB][hapmap];0.87[CHD][hapmap];0.85[JPT][hapmap];0.89[MEX][hapmap]
rs7002065	0.85[CHB][hapmap];0.85[JPT][hapmap];0.83[AMR][1000 genomes]
rs7017918	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs7842259	0.83[CHB][hapmap]
rs922723	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9298339	0.85[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap]
rs996166	0.86[CHB][hapmap]
rs996167	0.83[CHB][hapmap]

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	nsv948436	chr8:51115028-51917504	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv429914	chr8:51371447-51617647	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv531502	chr8:51390997-51703556	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3514165	chr8:51416583-51923545	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv3514166	chr8:51416583-51923545	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv890873	chr8:51462163-51612641	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv3447707	chr8:51483099-51488397	Weak transcription Enhancers	Chromatin interactive region	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	chr8:51471200-51489400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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