Variant report

Variant	rs34080450
Chromosome Location	chr1:223041452-223041453
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10495202	0.82[AMR][1000 genomes]
rs1132369	0.82[AMR][1000 genomes]
rs1132371	0.82[AMR][1000 genomes]
rs11588378	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12734196	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17475753	0.82[AMR][1000 genomes]
rs17475774	0.82[AMR][1000 genomes]
rs17477752	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17534704	0.82[AMR][1000 genomes]
rs17534774	0.82[AMR][1000 genomes]
rs17535004	0.82[AMR][1000 genomes]
rs17535032	0.82[AMR][1000 genomes]
rs17535137	0.82[AMR][1000 genomes]
rs17536056	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17536209	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17536299	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17536396	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17536522	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34151467	0.82[AMR][1000 genomes]
rs34194482	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34225287	0.82[AMR][1000 genomes]
rs34232799	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34299243	0.82[AMR][1000 genomes]
rs34355153	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34503525	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34643369	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34690779	0.82[AMR][1000 genomes]
rs34701716	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34713681	0.82[AMR][1000 genomes]
rs34755094	0.82[AMR][1000 genomes]
rs34761499	0.82[AMR][1000 genomes]
rs34774807	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34791822	0.82[AMR][1000 genomes]
rs34804073	0.82[AMR][1000 genomes]
rs34893395	0.82[AMR][1000 genomes]
rs34962524	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35131473	0.82[AMR][1000 genomes]
rs35217299	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35270996	0.82[AMR][1000 genomes]
rs35283922	0.82[AMR][1000 genomes]
rs35319605	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35399857	0.82[AMR][1000 genomes]
rs35506390	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35538644	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35551242	0.95[EUR][1000 genomes]
rs35578837	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35597626	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35597790	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35689138	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35773347	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35898924	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35912520	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35947021	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs36090356	0.82[AMR][1000 genomes]
rs36113407	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4298738	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61838119	0.82[AMR][1000 genomes]
rs61839587	0.82[AMR][1000 genomes]
rs61839588	0.82[AMR][1000 genomes]
rs61839600	0.82[AMR][1000 genomes]
rs61839601	0.82[AMR][1000 genomes]
rs61839602	0.82[AMR][1000 genomes]
rs61840263	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61840271	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61840273	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs71644708	0.82[AMR][1000 genomes]
rs71644709	0.90[EUR][1000 genomes]
rs71644714	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71644716	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71644718	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73128632	0.90[AFR][1000 genomes]
rs73128639	0.90[AFR][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	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv873206	chr1:222985197-223124916	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223017600-223042400	Weak transcription	Colon Smooth Muscle	Colon
2	chr1:223029800-223066800	Weak transcription	Primary B cells from cord blood	blood
3	chr1:223035000-223054000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:223039200-223041600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:223040800-223042800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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