Variant report

Variant	rs7600697
Chromosome Location	chr2:189644478-189644479
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10084412	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10166484	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10209411	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10804024	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10931381	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10931382	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1157434	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11679794	0.80[EUR][1000 genomes]
rs11891828	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11902285	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12470289	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12617610	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12619491	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12624180	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12998848	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13001931	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13017203	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13024524	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13026165	0.80[EUR][1000 genomes]
rs1518006	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1518013	0.80[EUR][1000 genomes]
rs1518014	0.80[EUR][1000 genomes]
rs1524375	0.82[EUR][1000 genomes]
rs1568235	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1589133	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1607315	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1829305	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1850553	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1878650	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1996457	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2177544	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34017611	0.80[EUR][1000 genomes]
rs3856335	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4261667	0.80[EUR][1000 genomes]
rs4306657	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4666764	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4667249	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6710589	0.80[EUR][1000 genomes]
rs6711038	0.80[EUR][1000 genomes]
rs6757283	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7587851	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7590689	0.81[EUR][1000 genomes]
rs7594142	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7598731	0.80[EUR][1000 genomes]
rs981265	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003974	chr2:189331760-189827814	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1000932	chr2:189542210-189677277	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv536088	chr2:189542210-189677277	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv875606	chr2:189579045-189688463	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv875607	chr2:189579045-189711790	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1008847	chr2:189603961-189769705	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv997454	chr2:189615728-189770133	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1002175	chr2:189615728-189776301	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr2:189631600-189650000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr2:189641000-189649000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:189642400-189648400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:189642400-189648400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr2:189642400-189650000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:189643600-189648400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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