Variant report

Variant	rs56304912
Chromosome Location	chr2:101148457-101148458
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10166130	0.87[EUR][1000 genomes]
rs10166865	0.85[EUR][1000 genomes]
rs10203739	0.83[EUR][1000 genomes]
rs11884644	0.85[EUR][1000 genomes]
rs11892956	0.85[EUR][1000 genomes]
rs11902961	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12465627	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12466753	0.87[EUR][1000 genomes]
rs12475281	0.87[EUR][1000 genomes]
rs12475282	0.87[EUR][1000 genomes]
rs13385681	0.85[EUR][1000 genomes]
rs13388529	0.85[EUR][1000 genomes]
rs13389527	0.85[EUR][1000 genomes]
rs13393776	0.84[EUR][1000 genomes]
rs13411940	0.85[EUR][1000 genomes]
rs13414632	0.85[EUR][1000 genomes]
rs13414838	0.85[EUR][1000 genomes]
rs13421353	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13427972	0.85[EUR][1000 genomes]
rs13428749	0.84[EUR][1000 genomes]
rs13430695	0.85[EUR][1000 genomes]
rs17024335	0.85[EUR][1000 genomes]
rs17024409	0.84[EUR][1000 genomes]
rs17024441	0.87[EUR][1000 genomes]
rs2309858	0.85[EUR][1000 genomes]
rs2309859	0.84[EUR][1000 genomes]
rs2309860	0.83[EUR][1000 genomes]
rs2309862	0.84[EUR][1000 genomes]
rs2871352	0.84[EUR][1000 genomes]
rs35031879	0.83[EUR][1000 genomes]
rs4581914	0.85[EUR][1000 genomes]
rs4630791	0.85[EUR][1000 genomes]
rs4632365	0.85[EUR][1000 genomes]
rs4633941	0.85[EUR][1000 genomes]
rs57819301	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62155208	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6542966	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6718127	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6739721	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6745117	0.83[EUR][1000 genomes]
rs6747630	0.90[EUR][1000 genomes]
rs6760452	0.85[EUR][1000 genomes]
rs750033	0.85[EUR][1000 genomes]
rs7578352	0.85[EUR][1000 genomes]
rs7592840	0.85[EUR][1000 genomes]
rs7596851	0.85[EUR][1000 genomes]
rs7597254	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7598078	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7598339	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7599321	0.85[EUR][1000 genomes]
rs7602968	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs869840	0.83[EUR][1000 genomes]
rs9308837	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][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	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv582531	chr2:100908508-101207639	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv916792	chr2:101021066-101525200	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv582532	chr2:101029002-101531943	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv834312	chr2:101044438-101238166	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:101136800-101149000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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