Variant report

Variant	rs56256040
Chromosome Location	chr16:69575992-69575993
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10852457	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11075728	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11642030	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11642115	0.82[ASN][1000 genomes]
rs12596731	0.89[EUR][1000 genomes]
rs12597243	0.86[EUR][1000 genomes]
rs12599648	0.81[EUR][1000 genomes]
rs16958970	0.80[AMR][1000 genomes]
rs2161631	0.91[EUR][1000 genomes]
rs60099379	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7187653	0.94[EUR][1000 genomes]
rs7190652	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7194753	0.94[EUR][1000 genomes]
rs7196943	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7200935	0.94[EUR][1000 genomes]
rs8045705	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9929720	0.92[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	nsv431514	chr16:69428599-69581699	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv906821	chr16:69509506-69576894	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1852	chr16:69566121-69610962	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs56256040	LOC440348	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69569800-69576800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr16:69569800-69576800	Weak transcription	NHLF	lung
3	chr16:69569800-69579800	Weak transcription	Placenta	Placenta
4	chr16:69570000-69577000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr16:69573800-69576800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr16:69574000-69576800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr16:69574000-69576800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr16:69574000-69576800	Weak transcription	NHDF-Ad	bronchial
9	chr16:69574000-69576800	Weak transcription	Osteobl	bone
10	chr16:69574200-69577000	Weak transcription	A549	lung
11	chr16:69574600-69576600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr16:69574600-69577000	Weak transcription	Hela-S3	cervix
13	chr16:69574600-69597800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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Input of quick search could be:

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

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