Variant report

Variant	rs12998213
Chromosome Location	chr2:173015253-173015254
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12692981	0.83[GIH][hapmap]
rs13009919	0.83[GIH][hapmap];1.00[YRI][hapmap]
rs2884155	0.83[GIH][hapmap];1.00[YRI][hapmap]
rs34535766	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35319415	0.82[EUR][1000 genomes]
rs66536067	0.81[EUR][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	nsv875413	chr2:173009413-173097343	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs12998213	MAP4	trans	parietal	SCAN
rs12998213	ATP5G3	cis	cerebellum	SCAN
rs12998213	OLA1	cis	cerebellum	SCAN
rs12998213	BRPF3	trans	cerebellum	SCAN
rs12998213	DHRS9	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173013200-173017600	Weak transcription	Fetal Thymus	thymus

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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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