Variant report

Variant	rs8010446
Chromosome Location	chr14:78661331-78661332
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs100611	0.94[JPT][hapmap]
rs12895757	0.84[ASN][1000 genomes]
rs213566	0.90[ASN][1000 genomes]
rs4903720	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4903724	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72683761	0.96[ASN][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	nsv1366	chr14:78633044-78677718	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8010446	SPTLC2	cis	cerebellum	SCAN
rs8010446	C14orf118	cis	parietal	SCAN
rs8010446	DNAL1	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78659200-78666000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:78659600-78664200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr14:78660200-78663000	Enhancers	Brain Germinal Matrix	brain
4	chr14:78660600-78661600	Enhancers	Fetal Thymus	thymus
5	chr14:78661000-78666000	Weak transcription	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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