Variant report

Variant	rs10483918
Chromosome Location	chr14:79363572-79363573
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10483916	1.00[MKK][hapmap]
rs17757879	0.93[CEU][hapmap];1.00[GIH][hapmap];0.83[TSI][hapmap];0.81[EUR][1000 genomes]
rs17835842	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7157445	1.00[MKK][hapmap]
rs7160771	0.81[CEU][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap]
rs918888	1.00[CHD][hapmap]

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	nsv832838	chr14:79306627-79445382	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv1048274	chr14:79323592-79417906	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10483918	C14orf118	cis	parietal	SCAN
rs10483918	RPS6KL1	cis	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79358600-79364800	Weak transcription	Brain Anterior Caudate	brain
2	chr14:79359400-79364600	Weak transcription	Brain Angular Gyrus	brain
3	chr14:79359400-79365200	Weak transcription	Brain Hippocampus Middle	brain
4	chr14:79359600-79364800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr14:79360000-79364200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr14:79360400-79364400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr14:79363000-79364000	Enhancers	Brain Substantia Nigra	brain
8	chr14:79363400-79365400	Weak transcription	Brain Inferior Temporal Lobe	brain

Quick Search:

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

what's new

Quick links