Variant report

Variant	rs6665166
Chromosome Location	chr1:57828480-57828481
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10047071	0.85[ASN][1000 genomes]
rs10047072	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10047073	0.85[ASN][1000 genomes]
rs10047177	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10047179	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1077424	0.90[ASN][1000 genomes]
rs1077425	0.90[ASN][1000 genomes]
rs10889035	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10889036	0.90[ASN][1000 genomes]
rs10889037	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10889039	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10889040	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10889041	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11207007	0.80[ASN][1000 genomes]
rs11207010	0.83[ASN][1000 genomes]
rs11207011	0.81[ASN][1000 genomes]
rs11207012	0.90[ASN][1000 genomes]
rs11207013	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11207014	0.90[ASN][1000 genomes]
rs11207015	0.90[ASN][1000 genomes]
rs11207016	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11207017	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11207018	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11207022	0.80[ASN][1000 genomes]
rs11588755	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11589921	0.82[ASN][1000 genomes]
rs11590708	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11799925	0.87[ASN][1000 genomes]
rs12067263	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12085326	0.87[ASN][1000 genomes]
rs12087888	0.83[ASN][1000 genomes]
rs12119147	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12119210	0.95[ASN][1000 genomes]
rs12126723	0.95[ASN][1000 genomes]
rs12139429	0.87[ASN][1000 genomes]
rs12240237	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1240439	0.81[ASN][1000 genomes]
rs1240442	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1240443	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12405761	0.85[ASN][1000 genomes]
rs12565446	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12565636	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12741210	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1364444	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1424462	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1424463	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1424464	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1424465	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1424467	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1424468	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1424469	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1424470	0.95[ASN][1000 genomes]
rs1504594	0.90[ASN][1000 genomes]
rs1557222	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs166514	0.90[ASN][1000 genomes]
rs17423255	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1809976	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1834151	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1862925	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2113453	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2113454	0.87[ASN][1000 genomes]
rs2113456	0.90[ASN][1000 genomes]
rs2161808	0.87[ASN][1000 genomes]
rs2216808	0.82[ASN][1000 genomes]
rs2405696	0.87[ASN][1000 genomes]
rs2405697	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs267646	0.81[ASN][1000 genomes]
rs267650	0.83[ASN][1000 genomes]
rs267651	0.85[ASN][1000 genomes]
rs269038	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs269039	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs269045	0.81[ASN][1000 genomes]
rs35804651	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3861833	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3909557	0.80[ASN][1000 genomes]
rs3909558	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs540431	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs567773	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61769668	0.90[ASN][1000 genomes]
rs61769670	0.87[ASN][1000 genomes]
rs61769725	0.82[ASN][1000 genomes]
rs6587767	0.85[ASN][1000 genomes]
rs6668257	0.80[ASN][1000 genomes]
rs6669975	0.87[ASN][1000 genomes]
rs6677561	0.95[ASN][1000 genomes]
rs6687842	0.87[ASN][1000 genomes]
rs6687934	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6690017	0.80[ASN][1000 genomes]
rs7535763	0.87[ASN][1000 genomes]
rs7543805	0.90[ASN][1000 genomes]
rs7547412	0.88[ASN][1000 genomes]
rs7547509	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs77510	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs77511	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs882283	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs90940	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871943	chr1:57784144-57855876	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv871530	chr1:57793948-57858319	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv817216	chr1:57801783-58130775	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv871968	chr1:57803349-57858319	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv954	chr1:57823140-57865799	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57819400-57832000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:57823800-57833200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:57826000-57829600	Enhancers	Fetal Heart	heart
4	chr1:57827400-57829800	Weak transcription	Fetal Brain Male	brain
5	chr1:57827400-57833800	Weak transcription	Fetal Brain Female	brain
6	chr1:57828000-57828600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:57828200-57829600	Enhancers	Left Ventricle	heart
8	chr1:57828400-57829200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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