Variant report

Variant	rs2113453
Chromosome Location	chr1:57833689-57833690
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 117 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs10047071	0.92[ASN][1000 genomes]
rs10047072	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10047073	0.92[ASN][1000 genomes]
rs10047177	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10047179	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10493219	0.80[ASN][1000 genomes]
rs1077424	0.84[ASN][1000 genomes]
rs1077425	0.84[ASN][1000 genomes]
rs10889035	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10889036	0.84[ASN][1000 genomes]
rs10889037	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10889039	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10889040	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10889041	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11207012	0.84[ASN][1000 genomes]
rs11207013	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11207014	0.84[ASN][1000 genomes]
rs11207015	0.84[ASN][1000 genomes]
rs11207016	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11207017	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11207018	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11207020	0.82[ASN][1000 genomes]
rs11207021	0.80[ASN][1000 genomes]
rs11207022	0.87[ASN][1000 genomes]
rs11579258	0.80[ASN][1000 genomes]
rs11581250	0.80[ASN][1000 genomes]
rs11585284	0.80[ASN][1000 genomes]
rs11586826	0.80[ASN][1000 genomes]
rs11588755	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11590652	0.83[ASN][1000 genomes]
rs11590708	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11799925	0.80[ASN][1000 genomes]
rs12067263	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12085326	0.81[ASN][1000 genomes]
rs12119147	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12119210	0.88[ASN][1000 genomes]
rs12124445	0.80[ASN][1000 genomes]
rs12125219	0.80[ASN][1000 genomes]
rs12126723	0.88[ASN][1000 genomes]
rs12127603	0.80[ASN][1000 genomes]
rs12136107	0.80[ASN][1000 genomes]
rs12137540	0.85[ASN][1000 genomes]
rs12139429	0.80[ASN][1000 genomes]
rs12240237	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1240442	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1240443	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12405761	0.92[ASN][1000 genomes]
rs12565446	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12565636	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12566690	0.82[ASN][1000 genomes]
rs12741210	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1364444	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1424462	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1424463	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1424464	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1424465	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1424467	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1424468	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1424469	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1424470	0.88[ASN][1000 genomes]
rs1504594	0.84[ASN][1000 genomes]
rs1557222	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs166514	0.84[ASN][1000 genomes]
rs17115685	0.80[ASN][1000 genomes]
rs17115686	0.80[ASN][1000 genomes]
rs17423255	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17424216	0.80[ASN][1000 genomes]
rs17457873	0.80[ASN][1000 genomes]
rs1809976	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1834151	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1862925	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2052615	0.83[ASN][1000 genomes]
rs2052616	0.83[ASN][1000 genomes]
rs2052617	0.80[ASN][1000 genomes]
rs2113454	0.80[ASN][1000 genomes]
rs2113456	0.84[ASN][1000 genomes]
rs2161808	0.81[ASN][1000 genomes]
rs2216808	0.88[ASN][1000 genomes]
rs2405696	0.93[ASN][1000 genomes]
rs2405697	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs269038	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs269039	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs269042	0.81[EUR][1000 genomes]
rs269045	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35804651	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3738553	0.82[ASN][1000 genomes]
rs3861833	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3909556	0.80[ASN][1000 genomes]
rs3909557	0.87[ASN][1000 genomes]
rs3909558	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs540431	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs567773	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61769668	0.84[ASN][1000 genomes]
rs61769670	0.80[ASN][1000 genomes]
rs61769725	0.88[ASN][1000 genomes]
rs6665166	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6669975	0.93[ASN][1000 genomes]
rs6677561	0.88[ASN][1000 genomes]
rs6687842	0.80[ASN][1000 genomes]
rs6687934	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6690017	0.87[ASN][1000 genomes]
rs7513076	0.85[ASN][1000 genomes]
rs7528735	0.82[ASN][1000 genomes]
rs7535763	0.93[ASN][1000 genomes]
rs7540817	0.82[ASN][1000 genomes]
rs7543805	0.84[ASN][1000 genomes]
rs7547412	0.82[ASN][1000 genomes]
rs7547509	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs77510	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs77511	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs882283	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs90940	0.84[EUR][1000 genomes];0.87[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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57827400-57833800	Weak transcription	Fetal Brain Female	brain
2	chr1:57828600-57836800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:57829600-57843400	Weak transcription	Fetal Heart	heart
4	chr1:57830200-57841800	Weak transcription	Fetal Brain Male	brain
5	chr1:57833000-57835800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:57833200-57833800	Enhancers	HepG2	liver
7	chr1:57833200-57834000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:57833200-57834400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:57833400-57834000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:57833600-57835000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain

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