Variant report

Variant	rs1030431
Chromosome Location	chr8:59311697-59311698
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10957054	0.81[AMR][1000 genomes]
rs11783515	0.88[CEU][hapmap]
rs11996829	1.00[CEU][hapmap];0.81[AMR][1000 genomes]
rs13263105	1.00[CEU][hapmap];0.81[AMR][1000 genomes]
rs13277801	1.00[CEU][hapmap]
rs1993453	1.00[CEU][hapmap]
rs2016886	1.00[CEU][hapmap];0.83[AMR][1000 genomes]
rs6982486	1.00[CEU][hapmap];0.81[AMR][1000 genomes]
rs7007181	1.00[CEU][hapmap];0.88[YRI][hapmap];0.82[AMR][1000 genomes]
rs8192870	0.83[CEU][hapmap]

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	esv2757275	chr8:59305290-59342331	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
2	esv2759619	chr8:59305290-59342331	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
3	nsv438058	chr8:59305833-59318448	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59308600-59312400	Weak transcription	Fetal Stomach	stomach
2	chr8:59309600-59312600	Weak transcription	Fetal Lung	lung
3	chr8:59309800-59312200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr8:59310600-59312200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr8:59311200-59312000	Enhancers	Primary neutrophils fromperipheralblood	blood

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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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