Variant report

Variant	rs7979671
Chromosome Location	chr12:30113970-30113971
allele	A/C
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:12)

rs_ID	r²[population]
rs12811826	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12814936	0.90[AFR][1000 genomes]
rs12818934	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12820126	0.90[AFR][1000 genomes]
rs12820739	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs12823408	0.90[AFR][1000 genomes]
rs12823811	0.90[AFR][1000 genomes]
rs12825788	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16935257	0.90[AFR][1000 genomes]
rs7954597	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9300194	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9668807	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv2758302	chr12:30023167-30175232	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv2759889	chr12:30023167-30175232	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv948495	chr12:30090771-30344772	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1042652	chr12:30094830-30133320	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7979671	PUSL1	cis	Frontal Cortex	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30112800-30114000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:30112800-30114200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:30112800-30114200	Enhancers	Fetal Brain Male	brain
4	chr12:30112800-30114400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr12:30113800-30114200	Enhancers	Aorta	Aorta
6	chr12:30113800-30114400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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