Variant report

Variant	rs73028643
Chromosome Location	chr1:171103170-171103171
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10399740	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10912500	1.00[AMR][1000 genomes]
rs10912599	1.00[AMR][1000 genomes]
rs10912623	1.00[AMR][1000 genomes]
rs12061893	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12066832	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12071161	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12072582	0.95[AFR][1000 genomes]
rs12073562	0.95[AFR][1000 genomes]
rs12075699	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12085769	1.00[AMR][1000 genomes]
rs56910253	1.00[AMR][1000 genomes]
rs6656513	1.00[AMR][1000 genomes]
rs6689816	1.00[AMR][1000 genomes]
rs6701657	1.00[AMR][1000 genomes]
rs73032550	1.00[AMR][1000 genomes]
rs73032556	1.00[AMR][1000 genomes]
rs73032574	1.00[AMR][1000 genomes]
rs73032600	1.00[AMR][1000 genomes]
rs73034309	1.00[AMR][1000 genomes]
rs7552423	1.00[AMR][1000 genomes]
rs7883579	0.95[AFR][1000 genomes];1.00[AMR][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	nsv1001228	chr1:170885787-171452579	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1005902	chr1:171036690-171254916	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv535203	chr1:171036690-171254916	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171091600-171109000	Weak transcription	Right Ventricle	heart
2	chr1:171097600-171104000	Weak transcription	Aorta	Aorta
3	chr1:171097800-171107200	Weak transcription	Left Ventricle	heart
4	chr1:171099000-171105200	Weak transcription	Fetal Lung	lung
5	chr1:171100000-171105200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:171103000-171103800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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