Variant report

Variant	rs11182829
Chromosome Location	chr12:45484189-45484190
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10880730	0.89[CEU][hapmap]
rs10880739	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1118481	0.84[CEU][hapmap]
rs1495042	0.89[CEU][hapmap]
rs2042102	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs2544102	0.89[CEU][hapmap]
rs2643140	0.85[CEU][hapmap]
rs2897857	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3858731	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3990143	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4561266	0.92[CEU][hapmap]
rs7964644	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7966458	0.87[EUR][1000 genomes]
rs7969381	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7975969	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8181757	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[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	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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11182829	PPHLN1	cis	parietal	SCAN
rs11182829	DBX2	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45482600-45484200	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr12:45482800-45484200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:45483000-45484200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:45483000-45484200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr12:45483000-45484800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr12:45483200-45484200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:45483800-45485600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:45483800-45487600	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr12:45484000-45484200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:45484000-45485200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr12:45484000-45486200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:45484000-45486800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:45484000-45486800	Weak transcription	Adipose Nuclei	Adipose

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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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