Variant report

Variant	rs72866890
Chromosome Location	chr11:17466516-17466517
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2074317	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2283257	0.94[ASN][1000 genomes]
rs4148618	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7108578	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7119439	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs873314	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469895	chr11:17368270-17584220	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72866890	ABCC8	cis	Muscle Skeletal	GTEx

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17456000-17469200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr11:17457000-17467200	Weak transcription	Fetal Brain Male	brain
3	chr11:17460800-17474000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr11:17461200-17497400	Weak transcription	Gastric	stomach
5	chr11:17464800-17472800	Weak transcription	Brain Anterior Caudate	brain
6	chr11:17465800-17469600	Weak transcription	Brain Germinal Matrix	brain
7	chr11:17465800-17481600	Weak transcription	Fetal Brain Female	brain
8	chr11:17465800-17496400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr11:17466000-17470000	Strong transcription	Pancreatic Islets	Pancreatic Islet
10	chr11:17466200-17467400	Enhancers	Dnd41	blood
11	chr11:17466200-17473600	Weak transcription	Brain Angular Gyrus	brain

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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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