Variant report

Variant	rs40527
Chromosome Location	chr5:127550252-127550253
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs152906	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs181850	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs185177	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs251213	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs251214	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs251216	0.82[EUR][1000 genomes]
rs251387	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs251389	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs251391	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2546147	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2617621	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36693	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36694	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs36697	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs36698	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs36700	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36702	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36712	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36714	0.87[EUR][1000 genomes]
rs36715	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs42916	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830482	chr5:127475398-127665377	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv969272	chr5:127544309-127551686	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs40527	CTC-228N24.3	cis	Skin Sun Exposed Lower leg	GTEx
rs40527	FBN2	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127537600-127552600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:127544600-127552200	Weak transcription	Left Ventricle	heart
3	chr5:127548400-127552800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr5:127549000-127552800	Weak transcription	Esophagus	oesophagus
5	chr5:127549400-127550400	Weak transcription	Fetal Heart	heart
6	chr5:127549400-127551000	Weak transcription	Fetal Lung	lung
7	chr5:127549400-127552200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:127549400-127552600	Weak transcription	Fetal Muscle Leg	muscle
9	chr5:127549800-127553000	Weak transcription	Fetal Stomach	stomach

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