Variant report

Variant	rs949987
Chromosome Location	chr8:67224715-67224716
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs16932810	0.91[EUR][1000 genomes]
rs28371959	0.81[EUR][1000 genomes]
rs28536124	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4324908	0.83[EUR][1000 genomes]
rs55804693	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56336230	0.91[EUR][1000 genomes]
rs6981785	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7001956	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7010677	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7011259	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7018347	0.84[EUR][1000 genomes]
rs73691523	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7822867	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7839868	0.90[EUR][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	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3414665	chr8:66936816-67381935	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv6235	chr8:67188081-67232737	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs949987	YPEL1	cis	Cerebellum	GTEx
rs949987	ADHFE1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67204400-67226800	Weak transcription	Pancreas	Pancrea
2	chr8:67204400-67232200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:67222600-67228000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:67223400-67225000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:67223800-67224800	Enhancers	NHDF-Ad	bronchial
6	chr8:67223800-67225000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr8:67224400-67227800	Weak transcription	Osteobl	bone
8	chr8:67224600-67228200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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