Variant report

Variant	rs2560717
Chromosome Location	chr5:118890123-118890124
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11539471	0.83[EUR][1000 genomes]
rs11746780	0.80[EUR][1000 genomes]
rs11952111	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11957255	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11959717	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1388106	0.80[EUR][1000 genomes]
rs17145469	0.80[EUR][1000 genomes]
rs17145471	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17145473	0.83[EUR][1000 genomes]
rs17145475	0.83[EUR][1000 genomes]
rs17145476	0.83[EUR][1000 genomes]
rs17145477	0.89[EUR][1000 genomes]
rs2560718	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2561519	0.88[AFR][1000 genomes]
rs2678067	1.00[ASN][1000 genomes]
rs28943596	0.85[EUR][1000 genomes]
rs34338122	0.89[EUR][1000 genomes]
rs3850201	0.87[EUR][1000 genomes]
rs4895194	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4895195	0.93[EUR][1000 genomes]
rs56411336	0.83[EUR][1000 genomes]
rs57218593	0.83[EUR][1000 genomes]
rs59034186	0.82[EUR][1000 genomes]
rs59119324	0.82[EUR][1000 genomes]
rs60497431	0.80[EUR][1000 genomes]
rs60796985	0.89[EUR][1000 genomes]
rs61093477	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61412235	0.85[EUR][1000 genomes]
rs66462865	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs66534333	0.85[EUR][1000 genomes]
rs66831568	0.83[EUR][1000 genomes]
rs67990368	0.83[EUR][1000 genomes]
rs68024523	0.85[EUR][1000 genomes]
rs68126620	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72788186	0.80[EUR][1000 genomes]
rs72788194	0.82[EUR][1000 genomes]
rs72788197	0.80[EUR][1000 genomes]
rs72788199	0.80[EUR][1000 genomes]
rs72790203	0.85[EUR][1000 genomes]
rs72790207	0.87[EUR][1000 genomes]
rs72790214	0.95[EUR][1000 genomes]
rs72790217	0.91[EUR][1000 genomes]
rs72790221	0.95[EUR][1000 genomes]
rs72790222	0.95[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	nsv427732	chr5:118730999-119034741	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1024455	chr5:118770429-119487982	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1016271	chr5:118836891-119487982	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv882776	chr5:118859546-118915408	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv882777	chr5:118870452-118981480	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr5:118874800-118890200	Weak transcription	Fetal Heart	heart
2	chr5:118879000-118891200	Weak transcription	Pancreas	Pancrea
3	chr5:118879200-118892200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr5:118888800-118890400	Enhancers	Brain Hippocampus Middle	brain
5	chr5:118889800-118890400	Weak transcription	Brain Anterior Caudate	brain
6	chr5:118890000-118890600	Enhancers	Brain Angular Gyrus	brain
7	chr5:118890000-118890600	Enhancers	Brain Inferior Temporal Lobe	brain

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