Variant report

Variant	rs6439983
Chromosome Location	chr3:140939669-140939670
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11712552	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1511372	0.93[YRI][hapmap];0.85[AFR][1000 genomes]
rs1511373	0.85[AFR][1000 genomes]
rs16851151	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2012610	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2292400	0.87[CEU][hapmap];0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs2292401	0.94[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2292402	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55746651	0.80[EUR][1000 genomes]
rs56273864	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58903469	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6439982	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6439986	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6439987	0.94[CEU][hapmap];0.82[CHB][hapmap];0.83[JPT][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7636976	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]

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	nsv460870	chr3:140938546-141005574	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv591892	chr3:140938546-141005574	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6439983	ACPL2	cis	Whole Blood	GTEx

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:140931800-140941200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr3:140936400-140940000	Enhancers	Fetal Heart	heart
3	chr3:140937200-140940600	Weak transcription	Right Atrium	heart
4	chr3:140937600-140946800	Weak transcription	Thymus	Thymus
5	chr3:140938200-140940000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr3:140939000-140940200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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