Variant report

Variant	rs17768231
Chromosome Location	chr14:72413545-72413546
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10483837	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs12885258	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs12891745	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12896825	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs17768243	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2067854	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2238281	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2877774	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs34836658	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34836887	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs35607894	1.00[ASN][1000 genomes]
rs71427137	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs714974	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs714975	1.00[CHB][hapmap];0.86[MEX][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7161145	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs764625	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs929444	1.00[CHB][hapmap]

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	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17768231	RDH12	cis	parietal	SCAN
rs17768231	SLC39A9	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72410600-72425400	Weak transcription	Left Ventricle	heart
2	chr14:72411800-72415600	Strong transcription	Cortex derived primary cultured neurospheres	brain
3	chr14:72412600-72415000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr14:72412800-72413600	Enhancers	GM12878-XiMat	blood

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