Variant report

Variant	rs2381686
Chromosome Location	chr2:145826054-145826055
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10192407	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10496972	0.86[ASN][1000 genomes]
rs10928240	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1106909	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12618061	0.86[ASN][1000 genomes]
rs12618916	0.96[EUR][1000 genomes]
rs12691705	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12990539	0.86[ASN][1000 genomes]
rs13028626	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13408842	0.96[EUR][1000 genomes]
rs1830319	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1830321	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1852684	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1852685	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1852687	0.83[EUR][1000 genomes]
rs1976974	0.82[EUR][1000 genomes]
rs2252641	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2381687	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28709970	0.96[EUR][1000 genomes]
rs4662414	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6725803	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7561039	0.86[ASN][1000 genomes]
rs7575637	0.81[ASN][1000 genomes]
rs7592365	0.83[EUR][1000 genomes]
rs7593336	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs787428	0.94[EUR][1000 genomes]
rs787429	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv932113	chr2:145515124-145844491	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv834398	chr2:145659419-145830156	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv431768	chr2:145741527-145981491	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145819200-145826600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:145821400-145827000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:145823000-145826200	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr2:145824200-145830600	Weak transcription	Aorta	Aorta
5	chr2:145824600-145826200	Enhancers	Adipose Nuclei	Adipose
6	chr2:145825200-145826200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:145825200-145827400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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