Variant report

Variant	rs2488782
Chromosome Location	chr1:112898381-112898382
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1317812	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1343275	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1343276	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1936050	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2370863	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2488778	0.81[CEU][hapmap];0.83[CHB][hapmap];0.90[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2488779	0.96[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2488780	0.95[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs2488783	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2492526	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3005785	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3005789	0.82[AMR][1000 genomes];1.00[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	esv13370	chr1:112693290-113246263	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv508526	chr1:112839396-112915215	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv872156	chr1:112886545-112927912	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:112886800-112901400	Weak transcription	Pancreas	Pancrea
2	chr1:112894800-112899000	Weak transcription	Brain Substantia Nigra	brain
3	chr1:112895000-112899200	Weak transcription	Adipose Nuclei	Adipose
4	chr1:112897200-112899800	Weak transcription	Duodenum Mucosa	Duodenum

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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