Variant report

Variant	rs6421840
Chromosome Location	chr5:111891726-111891727
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:29)

rs_ID	r²[population]
rs10040932	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10055490	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13163826	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs163445	0.92[ASN][1000 genomes]
rs163447	0.87[ASN][1000 genomes]
rs338860	0.92[ASN][1000 genomes]
rs338861	0.92[ASN][1000 genomes]
rs338862	0.92[ASN][1000 genomes]
rs338865	0.92[ASN][1000 genomes]
rs338866	0.82[ASN][1000 genomes]
rs338868	0.89[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs3934641	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6421839	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6421841	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6421842	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6421843	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6594608	0.89[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs6594609	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6594610	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6594611	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6594612	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7443366	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7446737	0.83[ASN][1000 genomes]
rs7449028	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7702372	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7708839	0.82[ASN][1000 genomes]
rs7711803	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7721904	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7723866	0.91[EUR][1000 genomes];0.98[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	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv882715	chr5:111836278-111894491	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
3	nsv882716	chr5:111848890-111894491	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111886400-111891800	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr5:111889800-111892200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:111890000-111892000	Enhancers	NHLF	lung
4	chr5:111890200-111891800	Enhancers	HSMMtube	muscle
5	chr5:111890600-111891800	Enhancers	Brain Cingulate Gyrus	brain
6	chr5:111890800-111892200	Enhancers	HSMM	muscle
7	chr5:111891000-111891800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:111891000-111892200	Weak transcription	Fetal Heart	heart
9	chr5:111891000-111892200	Enhancers	NHDF-Ad	bronchial
10	chr5:111891200-111891800	Enhancers	Brain Anterior Caudate	brain
11	chr5:111891200-111899200	Weak transcription	Aorta	Aorta
12	chr5:111891600-111892000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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