Variant report

Variant	rs12986790
Chromosome Location	chr2:30925613-30925614
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12052219	0.90[CEU][hapmap];0.82[CHB][hapmap];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12618680	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13021296	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2011965	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2609942	1.00[CHB][hapmap];0.86[CHD][hapmap];0.89[JPT][hapmap];0.82[MEX][hapmap];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2681686	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2681687	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2946928	0.89[ASN][1000 genomes]
rs35481680	0.92[AMR][1000 genomes]
rs4346433	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4952177	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7599134	0.98[EUR][1000 genomes]
rs7601114	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv32718	chr2:30918546-30926192	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs12986790	ZNF175	trans	cerebellum	SCAN
rs12986790	MRPL33	cis	cerebellum	SCAN
rs12986790	LCLAT1	cis	parietal	SCAN
rs12986790	CAD	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30902400-30954000	Weak transcription	Gastric	stomach
2	chr2:30923600-30926200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:30925400-30926800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr2:30925400-30927200	Weak transcription	Fetal Heart	heart
5	chr2:30925600-30926400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr2:30925600-30926800	Enhancers	Monocytes-CD14+_RO01746	blood

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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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