Variant report

Variant	rs8120506
Chromosome Location	chr20:24844024-24844025
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs1029032	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11087480	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11700139	1.00[ASN][1000 genomes]
rs11700161	1.00[ASN][1000 genomes]
rs11906401	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11906511	0.93[EUR][1000 genomes]
rs1571772	1.00[ASN][1000 genomes]
rs2064404	0.90[CEU][hapmap];1.00[CHB][hapmap]
rs2150644	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4239751	0.90[CEU][hapmap];1.00[CHB][hapmap]
rs4815358	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs4815359	0.90[CEU][hapmap];1.00[CHB][hapmap]
rs55651048	0.81[AMR][1000 genomes]
rs55681373	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55905952	1.00[ASN][1000 genomes]
rs55979003	1.00[ASN][1000 genomes]
rs56000345	1.00[ASN][1000 genomes]
rs56053259	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56148678	0.93[EUR][1000 genomes]
rs56249107	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56299926	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56406017	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58353086	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6036939	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6036940	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6036948	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6049996	1.00[ASN][1000 genomes]
rs6050002	1.00[ASN][1000 genomes]
rs6050026	0.90[EUR][1000 genomes]
rs6050052	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6050056	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6050066	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6050121	0.85[AMR][1000 genomes]
rs6050123	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6050124	0.85[AMR][1000 genomes]
rs6050199	0.89[CEU][hapmap]
rs6076279	1.00[ASN][1000 genomes]
rs6076281	1.00[ASN][1000 genomes]
rs6076283	1.00[ASN][1000 genomes]
rs6076288	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6076289	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6076291	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6076293	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6083630	1.00[ASN][1000 genomes]
rs6083632	1.00[ASN][1000 genomes]
rs6083633	1.00[ASN][1000 genomes]
rs6083638	0.90[EUR][1000 genomes]
rs6083639	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6083645	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6083646	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6083647	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6083649	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6083650	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6083651	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6083653	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6083657	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6083697	0.90[CEU][hapmap];1.00[CHB][hapmap]
rs6083714	0.89[CEU][hapmap];1.00[CHB][hapmap]
rs6106957	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6106965	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6106967	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6114893	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62215819	1.00[ASN][1000 genomes]
rs62215821	1.00[ASN][1000 genomes]
rs62215822	1.00[ASN][1000 genomes]
rs62215823	1.00[ASN][1000 genomes]
rs62215824	1.00[ASN][1000 genomes]
rs62215826	1.00[ASN][1000 genomes]
rs6515535	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7262604	1.00[ASN][1000 genomes]
rs7269852	1.00[ASN][1000 genomes]
rs73101427	1.00[ASN][1000 genomes]
rs73108128	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73110258	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73110260	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73337207	1.00[ASN][1000 genomes]
rs7509561	1.00[ASN][1000 genomes]
rs761368	0.90[CEU][hapmap];1.00[CHB][hapmap]
rs765834	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs8114708	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8114760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8117102	1.00[ASN][1000 genomes]
rs8117164	1.00[ASN][1000 genomes]
rs8119191	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8123541	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs914308	0.90[EUR][1000 genomes]
rs914309	0.84[AMR][1000 genomes];0.81[EUR][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	nsv1061412	chr20:24629468-24887869	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv544216	chr20:24629468-24887869	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1061455	chr20:24733120-24861801	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv544218	chr20:24733120-24861801	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1062140	chr20:24807962-25304054	Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv544219	chr20:24807962-25304054	Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
7	nsv1056345	chr20:24819570-25168159	Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24841800-24844600	Enhancers	Fetal Lung	lung
2	chr20:24843400-24844800	Enhancers	Osteobl	bone
3	chr20:24843600-24844600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr20:24843600-24844800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr20:24843800-24844200	Enhancers	NHLF	lung
6	chr20:24843800-24844400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr20:24843800-24844800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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