Variant report

Variant	rs73001719
Chromosome Location	chr2:145511079-145511080
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11689575	1.00[ASN][1000 genomes]
rs1559963	1.00[ASN][1000 genomes]
rs4384720	1.00[ASN][1000 genomes]
rs57477957	1.00[ASN][1000 genomes]
rs57834922	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58504774	1.00[ASN][1000 genomes]
rs58811157	1.00[ASN][1000 genomes]
rs59042570	1.00[ASN][1000 genomes]
rs66537831	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6718158	1.00[ASN][1000 genomes]
rs6720379	1.00[ASN][1000 genomes]
rs67382063	1.00[ASN][1000 genomes]
rs6752912	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs68017203	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72852118	1.00[ASN][1000 genomes]
rs72852120	1.00[ASN][1000 genomes]
rs72852133	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72993904	1.00[ASN][1000 genomes]
rs72993910	1.00[ASN][1000 genomes]
rs72997876	1.00[ASN][1000 genomes]
rs72999719	1.00[ASN][1000 genomes]
rs72999723	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72999734	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72999737	1.00[ASN][1000 genomes]
rs72999751	1.00[ASN][1000 genomes]
rs72999753	1.00[ASN][1000 genomes]
rs73001730	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73001732	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73001735	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73001749	1.00[ASN][1000 genomes]
rs73001751	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73001753	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73001755	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73001758	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73003700	1.00[ASN][1000 genomes]
rs73005508	1.00[ASN][1000 genomes]
rs73005510	1.00[ASN][1000 genomes]
rs73962039	1.00[ASN][1000 genomes]
rs73962041	1.00[ASN][1000 genomes]
rs73963904	1.00[ASN][1000 genomes]
rs7595770	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv834397	chr2:145439528-145608628	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145506600-145516400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:145510600-145511600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:145510800-145511400	Enhancers	Fetal Lung	lung
4	chr2:145511000-145511600	Enhancers	Osteobl	bone

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