Variant report

Variant	rs2408141
Chromosome Location	chr12:45503563-45503564
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1004593	0.80[CEU][hapmap]
rs10880739	0.86[AFR][1000 genomes]
rs11182833	0.94[EUR][1000 genomes]
rs11182841	0.94[EUR][1000 genomes]
rs1224442	0.84[CEU][hapmap]
rs1224445	0.84[CEU][hapmap]
rs12366891	0.94[EUR][1000 genomes]
rs1826711	0.84[CEU][hapmap]
rs2544101	0.84[CEU][hapmap]
rs2544108	0.93[EUR][1000 genomes]
rs2544109	0.88[EUR][1000 genomes]
rs2544110	0.87[EUR][1000 genomes]
rs2643136	0.88[CEU][hapmap]
rs2731033	0.85[EUR][1000 genomes]
rs2731034	0.80[CEU][hapmap]
rs2731038	0.84[CEU][hapmap]
rs2731039	0.84[CEU][hapmap]
rs2731049	0.84[CEU][hapmap]
rs41427348	0.94[EUR][1000 genomes]
rs440884	0.88[CEU][hapmap]
rs7295673	0.91[CEU][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	esv3351644	chr12:45345597-45529449	Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2408141	PPHLN1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45502600-45503800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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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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