Variant report

Variant	rs4073206
Chromosome Location	chr12:119570503-119570504
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11064673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11064676	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58198276	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61938054	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61938055	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7956019	0.93[CEU][hapmap];1.00[MEX][hapmap];0.80[TSI][hapmap];0.89[AMR][1000 genomes];0.86[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	nsv1047036	chr12:119477583-119992640	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4073206	ANAPC5	cis	cerebellum	SCAN
rs4073206	RNFT2	cis	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119568000-119573200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:119568800-119571200	ZNF genes & repeats	Fetal Brain Male	brain
3	chr12:119568800-119572000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
4	chr12:119568800-119572800	ZNF genes & repeats	Brain Germinal Matrix	brain
5	chr12:119569200-119572800	ZNF genes & repeats	Fetal Brain Female	brain
6	chr12:119569600-119571400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
7	chr12:119569600-119571400	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:119569800-119570600	ZNF genes & repeats	Brain Cingulate Gyrus	brain

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