Variant report

Variant	rs12540821
Chromosome Location	chr7:27730193-27730194
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs12700836	0.83[ASN][1000 genomes]
rs17611937	0.80[CHB][hapmap];0.88[CHD][hapmap];0.88[JPT][hapmap]
rs17685046	0.80[CHB][hapmap];0.88[JPT][hapmap]
rs2051829	0.80[CHB][hapmap];0.88[CHD][hapmap];0.89[JPT][hapmap]
rs2237337	0.80[CHB][hapmap];0.88[CHD][hapmap];0.89[JPT][hapmap]
rs4722732	0.84[CHB][hapmap];0.89[JPT][hapmap]
rs4722739	0.80[CHB][hapmap];0.88[CHD][hapmap];0.89[JPT][hapmap]
rs4722742	0.80[CHB][hapmap]
rs6978847	0.80[CHB][hapmap];0.89[JPT][hapmap]
rs960293	0.80[CHB][hapmap];0.89[JPT][hapmap]
rs960294	0.80[CHB][hapmap];0.87[JPT][hapmap]
rs9639564	0.80[CHB][hapmap];0.88[CHD][hapmap];0.89[JPT][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	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12540821	HIBADH	Cis_1M	lymphoblastoid	RTeQTL
rs12540821	HIBADH	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27726200-27733000	Weak transcription	HepG2	liver
2	chr7:27726200-27733200	Weak transcription	Osteobl	bone
3	chr7:27729400-27730200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:27729400-27733400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:27729600-27733400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:27729600-27742200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:27730000-27730400	Weak transcription	NHDF-Ad	bronchial
8	chr7:27730000-27733400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr7:27730000-27733400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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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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