Variant report

Variant	rs2122570
Chromosome Location	chr5:40916816-40916817
allele	A/T
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:26)

rs_ID	r²[population]
rs11744119	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs178929	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1812960	0.89[EUR][1000 genomes]
rs1827364	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1910015	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2271709	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2455305	0.87[EUR][1000 genomes]
rs2675979	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2675981	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs324062	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs324064	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs324070	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs324071	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs324073	0.89[EUR][1000 genomes]
rs4360083	0.91[ASN][1000 genomes]
rs4957358	0.91[ASN][1000 genomes]
rs59027389	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60480205	0.91[ASN][1000 genomes]
rs6888489	0.93[ASN][1000 genomes]
rs6890698	0.93[ASN][1000 genomes]
rs6895317	0.93[ASN][1000 genomes]
rs73088503	0.93[ASN][1000 genomes]
rs73088510	0.94[ASN][1000 genomes]
rs7702096	0.93[ASN][1000 genomes]
rs7715597	0.91[ASN][1000 genomes]
rs7725655	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881467	chr5:40869802-41008650	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv2757114	chr5:40874078-41009282	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv2759341	chr5:40874078-41009282	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv823055	chr5:40875708-41004839	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv35077	chr5:40875843-41000671	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv830268	chr5:40897361-41138366	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr5:40915400-40918000	Weak transcription	Fetal Lung	lung
2	chr5:40915400-40920800	Weak transcription	Left Ventricle	heart
3	chr5:40916000-40919400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:40916000-40924400	Weak transcription	Ovary	ovary
5	chr5:40916600-40917600	Weak transcription	Fetal Heart	heart
6	chr5:40916800-40919600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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