Variant report

Variant	rs12880663
Chromosome Location	chr14:77956246-77956247
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs12884353	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2017446	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3742728	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs741853	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs8007669	0.83[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	nsv832835	chr14:77906706-78095207	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12880663	SPTLC2	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77950400-77957000	Weak transcription	Fetal Kidney	kidney
2	chr14:77951600-77957000	Weak transcription	Placenta	Placenta
3	chr14:77952400-77957000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:77953400-77964200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr14:77955800-77956800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:77956200-77957000	Weak transcription	HepG2	liver

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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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