Variant report

Variant	rs16849118
Chromosome Location	chr2:213575237-213575238
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs16849125	0.82[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3738859	0.91[EUR][1000 genomes]
rs72935007	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7571818	0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7575556	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv460093	chr2:213563072-213610359	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv584426	chr2:213563072-213610359	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv2650475	chr2:213573880-213575439	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
4	esv3437608	chr2:213574457-213575505	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs16849118	MREG	cis	parietal	SCAN
rs16849118	ACADL	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213571600-213577000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:213572800-213578200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:213574000-213576000	Weak transcription	NHLF	lung
4	chr2:213574200-213577000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:213574800-213576800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:213575000-213575400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:213575200-213576200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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

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