Variant report

Variant	rs11721212
Chromosome Location	chr3:53639939-53639940
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs11707976	1.00[CHB][hapmap]
rs11709171	1.00[CHB][hapmap]
rs11712998	1.00[CHB][hapmap]
rs11713811	1.00[CHB][hapmap]
rs11719110	1.00[CHB][hapmap]
rs11915489	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11916363	0.85[YRI][hapmap]
rs17237537	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17309406	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6804675	1.00[CHB][hapmap]

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	nsv1003621	chr3:53448934-54425322	Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11721212	TWF2	cis	parietal	SCAN
rs11721212	RRP9	cis	parietal	SCAN
rs11721212	RAD54L2	cis	parietal	SCAN
rs11721212	ARF4	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53605800-53645200	Weak transcription	Pancreas	Pancrea
2	chr3:53632200-53640400	Weak transcription	Fetal Lung	lung
3	chr3:53635200-53645200	Weak transcription	Lung	lung
4	chr3:53635400-53650200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:53639200-53640000	Enhancers	Fetal Intestine Large	intestine
6	chr3:53639400-53650200	Weak transcription	Fetal Intestine Small	intestine
7	chr3:53639600-53640200	Enhancers	Pancreatic Islets	Pancreatic Islet

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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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