Variant report

Variant	rs1113231
Chromosome Location	chr1:170343289-170343290
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1034185	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10494487	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10919349	0.90[ASN][1000 genomes]
rs10919378	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10919379	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10919382	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10919426	1.00[CHB][hapmap]
rs11578119	0.82[ASW][hapmap];1.00[CHB][hapmap];0.83[GIH][hapmap];0.85[LWK][hapmap];0.93[MKK][hapmap]
rs11586686	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12116910	1.00[CHB][hapmap]
rs12120764	0.82[ASW][hapmap];1.00[CHB][hapmap];0.83[GIH][hapmap];0.93[MKK][hapmap]
rs12121358	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12126109	0.90[ASN][1000 genomes]
rs12127149	0.91[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12128082	0.91[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12129359	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12130086	1.00[CHB][hapmap]
rs12130105	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12132288	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12132402	0.91[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs12135132	0.82[ASW][hapmap];1.00[CHB][hapmap];0.83[GIH][hapmap];0.85[LWK][hapmap];0.93[MKK][hapmap]
rs12135696	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12137241	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12138644	1.00[ASN][1000 genomes]
rs12139302	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12141935	1.00[ASN][1000 genomes]
rs12143611	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12145961	1.00[CHB][hapmap]
rs12407889	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12408130	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12732119	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12734846	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12748912	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12753359	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1332963	1.00[ASN][1000 genomes]
rs1332964	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1333142	1.00[CHB][hapmap]
rs1537390	1.00[CHB][hapmap]
rs17346122	0.96[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17346171	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17350179	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17350305	0.91[ASN][1000 genomes]
rs1888173	1.00[CHB][hapmap]
rs1928716	1.00[CHB][hapmap];0.83[GIH][hapmap]
rs1999523	0.82[ASW][hapmap];1.00[CHB][hapmap];0.83[GIH][hapmap];0.85[LWK][hapmap];0.93[MKK][hapmap]
rs2095135	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2183372	1.00[CHB][hapmap]
rs2421326	1.00[CHB][hapmap]
rs28436845	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34161857	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34860969	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35084451	1.00[ASN][1000 genomes]
rs35833908	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4256872	1.00[ASN][1000 genomes]
rs4489621	0.90[ASN][1000 genomes]
rs4558042	1.00[ASN][1000 genomes]
rs4575137	1.00[ASN][1000 genomes]
rs4578264	1.00[ASN][1000 genomes]
rs6657395	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6667077	0.90[ASN][1000 genomes]
rs6667462	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6684260	1.00[ASN][1000 genomes]
rs6698352	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap]
rs7516510	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7534693	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7537355	0.91[EUR][1000 genomes];1.00[ASN][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	nsv1014033	chr1:169968488-170453021	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535200	chr1:169968488-170453021	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv872543	chr1:170171083-170674903	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv533915	chr1:170258766-170725296	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	esv2756870	chr1:170315081-170413292	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	esv2758977	chr1:170315081-170413292	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv437269	chr1:170343289-170361172	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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