Variant report

Variant	rs10743716
Chromosome Location	chr12:30593952-30593953
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10734789	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10771721	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10771722	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1506372	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1506384	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1506385	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2221167	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4930927	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4931338	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61921064	0.98[ASN][1000 genomes]
rs6487912	0.98[ASN][1000 genomes]
rs7301133	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1045252	chr12:30583170-30621743	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1050233	chr12:30590071-30670919	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10743716	ERGIC2	cis	parietal	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30589800-30595000	Enhancers	Fetal Stomach	stomach
2	chr12:30590800-30596400	Weak transcription	Right Atrium	heart
3	chr12:30591200-30594000	Enhancers	Fetal Heart	heart
4	chr12:30591600-30594000	Weak transcription	HepG2	liver
5	chr12:30592600-30594600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:30592600-30600000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:30592800-30594600	Weak transcription	Pancreas	Pancrea
8	chr12:30593000-30594200	Weak transcription	Fetal Brain Male	brain
9	chr12:30593000-30602400	Weak transcription	Liver	Liver

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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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