Variant report

Variant	rs593846
Chromosome Location	chr20:13350251-13350252
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1012242	0.95[CHB][hapmap];0.94[JPT][hapmap];0.80[EUR][1000 genomes]
rs1151919	0.87[ASN][1000 genomes]
rs1474954	0.94[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.92[TSI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1474955	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1474956	0.95[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs1474957	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1998123	0.80[TSI][hapmap]
rs2001178	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2057256	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2070306	0.91[CHB][hapmap];0.91[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.82[TSI][hapmap]
rs2273477	0.88[ASW][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes]
rs2876344	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3761890	0.91[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap]
rs3803973	1.00[CHB][hapmap];0.86[CHD][hapmap];0.85[GIH][hapmap];0.90[JPT][hapmap];0.83[MEX][hapmap];0.85[TSI][hapmap]
rs3827702	1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes]
rs3827703	1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes]
rs4813126	0.94[ASN][1000 genomes]
rs4813132	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs4813134	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs4813135	1.00[CHB][hapmap];0.91[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap]
rs4814233	0.95[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs4814234	0.95[CHB][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs518981	0.97[ASN][1000 genomes]
rs527865	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs529646	0.96[ASN][1000 genomes]
rs591089	0.97[ASN][1000 genomes]
rs6033685	0.94[ASN][1000 genomes]
rs6033686	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6033687	0.88[ASN][1000 genomes]
rs6033688	0.85[ASN][1000 genomes]
rs6033705	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6033722	0.82[EUR][1000 genomes]
rs6033749	1.00[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap]
rs6033756	0.86[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap]
rs6042059	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6042141	0.82[TSI][hapmap]
rs6042162	0.82[EUR][1000 genomes]
rs6042188	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes]
rs6042192	1.00[CHB][hapmap];0.91[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes]
rs6042211	0.80[TSI][hapmap]
rs6074604	0.81[ASN][1000 genomes]
rs6074605	0.86[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.93[GIH][hapmap];0.82[JPT][hapmap];0.83[MEX][hapmap];0.90[TSI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6074610	1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs6079032	0.89[ASN][1000 genomes]
rs6079035	0.95[CHB][hapmap];0.86[CHD][hapmap];0.98[GIH][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs6079042	0.95[CHB][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];0.81[ASN][1000 genomes]
rs6079043	0.81[ASN][1000 genomes]
rs6079048	0.82[ASN][1000 genomes]
rs6079049	0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6079063	0.95[CHB][hapmap]
rs6079097	0.81[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.82[TSI][hapmap]
rs608239	0.97[ASN][1000 genomes]
rs6105087	0.86[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6105118	0.81[EUR][1000 genomes]
rs6109847	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6109854	0.81[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];0.82[JPT][hapmap];0.92[MEX][hapmap];0.87[TSI][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6109858	0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6109861	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6109862	0.95[CHB][hapmap];0.86[CHD][hapmap];0.91[GIH][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs6109918	0.81[EUR][1000 genomes]
rs6109935	1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[EUR][1000 genomes]
rs6131471	0.95[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs6134862	0.95[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs6134870	1.00[CHB][hapmap]
rs6134895	0.81[EUR][1000 genomes]
rs6514411	0.81[EUR][1000 genomes]
rs657719	0.85[ASN][1000 genomes]
rs7265499	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs743183	0.88[ASW][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];0.91[MEX][hapmap];0.90[TSI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs911014	0.83[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.90[TSI][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs932568	0.94[ASW][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];0.83[MEX][hapmap];0.90[TSI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][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	esv3425983	chr20:13046768-13461834	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv21228	chr20:13283535-13447810	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1062049	chr20:13347580-13477455	Enhancers ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv544186	chr20:13347580-13477455	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13325600-13354000	Weak transcription	Dnd41	blood
2	chr20:13344600-13352000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr20:13344800-13351600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr20:13349400-13351600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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