Variant report

Variant	rs12932251
Chromosome Location	chr16:70657274-70657275
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12051132	0.94[EUR][1000 genomes]
rs12596022	0.80[AFR][1000 genomes]
rs12596821	0.84[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs12596851	0.93[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs12596861	0.89[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs12596931	0.93[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs12599245	0.92[EUR][1000 genomes]
rs12923782	0.80[AFR][1000 genomes]
rs13330163	0.86[EUR][1000 genomes]
rs34538878	0.83[EUR][1000 genomes]
rs34878593	0.89[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs4985412	0.83[EUR][1000 genomes]
rs4985539	0.93[EUR][1000 genomes]
rs4985540	0.96[EUR][1000 genomes]
rs4985541	0.84[EUR][1000 genomes]
rs4985543	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs8053536	0.83[EUR][1000 genomes]
rs8061854	0.81[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	esv14380	chr16:70650573-70660117	Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12932251	LOC440348	Cis_chr	lymphoblastoid	RTeQTL
rs12932251	CLEC18A	cis	Whole Blood	GTEx
rs12932251	IL34	cis	lung	GTEx

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70647400-70669200	Weak transcription	Right Atrium	heart
2	chr16:70647800-70664800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr16:70656000-70657400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr16:70656200-70657400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr16:70656200-70657400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr16:70656200-70659000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr16:70656400-70657400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr16:70656800-70657400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr16:70656800-70657600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr16:70656800-70657600	Enhancers	H1 Cell Line	embryonic stem cell
11	chr16:70657000-70657400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr16:70657000-70657400	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr16:70657200-70657400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr16:70657200-70657600	Enhancers	H9 Cell Line	embryonic stem cell

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