Variant report

Variant	rs12278956
Chromosome Location	chr11:17508213-17508214
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12278908	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12576915	0.91[ASN][1000 genomes]
rs2072226	0.89[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs2072231	0.83[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.88[ASN][1000 genomes]
rs2072232	0.83[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2072233	0.83[CHB][hapmap];0.80[CHD][hapmap];0.90[JPT][hapmap];0.94[MEX][hapmap]
rs2355018	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57527755	0.98[ASN][1000 genomes]
rs58158338	0.88[ASN][1000 genomes]
rs6486372	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs886294	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv469895	chr11:17368270-17584220	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12278956	ABCC8	cis	parietal	SCAN
rs12278956	TPH1	cis	parietal	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17505800-17508800	Enhancers	Fetal Intestine Small	intestine
2	chr11:17506200-17508800	Enhancers	Fetal Intestine Large	intestine
3	chr11:17507800-17515800	Weak transcription	Gastric	stomach
4	chr11:17508000-17508600	Enhancers	HepG2	liver
5	chr11:17508000-17510600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr11:17508200-17510600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

Quick Search:

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

what's new

Quick links