Variant report

Variant	rs1113872
Chromosome Location	chr20:24868398-24868399
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 117 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:111)

rs_ID	r²[population]
rs1029031	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1029032	1.00[ASN][1000 genomes]
rs1029033	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11087480	1.00[ASN][1000 genomes]
rs1122607	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11697463	0.82[EUR][1000 genomes]
rs11700139	0.82[EUR][1000 genomes]
rs11700161	0.82[EUR][1000 genomes]
rs11905160	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11906401	1.00[ASN][1000 genomes]
rs11906511	1.00[ASN][1000 genomes]
rs12151907	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1331285	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1331290	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1411892	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1411894	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1411895	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1413069	0.84[EUR][1000 genomes]
rs1831483	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1888655	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2064404	1.00[CHB][hapmap]
rs28861375	0.81[AMR][1000 genomes]
rs4239751	1.00[CHB][hapmap]
rs4815358	1.00[CHB][hapmap]
rs4815359	1.00[CHB][hapmap]
rs55702326	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55905952	0.85[EUR][1000 genomes]
rs55979003	0.85[EUR][1000 genomes]
rs56000345	0.80[EUR][1000 genomes]
rs56053259	1.00[ASN][1000 genomes]
rs56106395	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56148678	1.00[ASN][1000 genomes]
rs56179484	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6036915	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6036939	1.00[ASN][1000 genomes]
rs6036943	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6036946	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6036948	1.00[ASN][1000 genomes]
rs6036951	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6036955	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6036967	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6036968	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6036969	1.00[ASN][1000 genomes]
rs6036970	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6036971	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6036972	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6049996	0.86[EUR][1000 genomes]
rs6050000	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050002	0.84[EUR][1000 genomes]
rs6050007	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050026	1.00[ASN][1000 genomes]
rs6050051	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050052	1.00[ASN][1000 genomes]
rs6050056	1.00[ASN][1000 genomes]
rs6050058	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050066	1.00[ASN][1000 genomes]
rs6050070	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050073	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050074	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050111	1.00[ASN][1000 genomes]
rs6050114	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050115	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050116	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050117	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050119	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050120	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050122	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6050125	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6076279	0.84[EUR][1000 genomes]
rs6076281	0.84[EUR][1000 genomes]
rs6076283	0.84[EUR][1000 genomes]
rs6076290	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6076292	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6076299	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6083628	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6083630	0.84[EUR][1000 genomes]
rs6083631	0.84[EUR][1000 genomes]
rs6083632	0.84[EUR][1000 genomes]
rs6083633	0.84[EUR][1000 genomes]
rs6083638	1.00[ASN][1000 genomes]
rs6083647	1.00[ASN][1000 genomes]
rs6083648	1.00[ASN][1000 genomes]
rs6083649	1.00[ASN][1000 genomes]
rs6083652	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6083656	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6083658	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6083672	0.86[AMR][1000 genomes]
rs6083697	1.00[CHB][hapmap]
rs6083714	1.00[CHB][hapmap]
rs6106963	1.00[ASN][1000 genomes]
rs6106968	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6106969	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6114915	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6114918	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6114921	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62215819	0.80[EUR][1000 genomes]
rs62215823	0.84[EUR][1000 genomes]
rs62215824	0.84[EUR][1000 genomes]
rs62215826	0.84[EUR][1000 genomes]
rs62215832	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6515538	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7262604	0.85[EUR][1000 genomes]
rs73101427	0.80[EUR][1000 genomes]
rs7509561	0.82[EUR][1000 genomes]
rs761368	1.00[CHB][hapmap]
rs765834	1.00[CHB][hapmap]
rs8117102	0.85[EUR][1000 genomes]
rs8117164	0.85[EUR][1000 genomes]
rs914308	1.00[ASN][1000 genomes]
rs914310	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs914311	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
4	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
5	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
6	nsv1055341	chr20:24848416-25302271	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1113872	C20orf191	cis	cerebellum	SCAN
rs1113872	C20orf3	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24865800-24868600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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