Variant report

Variant	rs57956448
Chromosome Location	chr12:48507243-48507244
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10128967	1.00[ASN][1000 genomes]
rs10128968	1.00[ASN][1000 genomes]
rs10506279	1.00[ASN][1000 genomes]
rs11835938	1.00[ASN][1000 genomes]
rs12301562	1.00[ASN][1000 genomes]
rs12316682	1.00[ASN][1000 genomes]
rs2450995	1.00[ASN][1000 genomes]
rs41291963	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs41291967	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55820056	1.00[ASN][1000 genomes]
rs58317398	1.00[ASN][1000 genomes]
rs60209369	1.00[ASN][1000 genomes]
rs60679254	1.00[ASN][1000 genomes]
rs73304917	1.00[ASN][1000 genomes]
rs74089110	1.00[ASN][1000 genomes]
rs74089159	1.00[ASN][1000 genomes]
rs74089163	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	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv508673	chr12:48489786-48567138	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48501000-48508800	Weak transcription	K562	blood
2	chr12:48501200-48512200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr12:48505200-48512000	Weak transcription	Hela-S3	cervix

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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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