Variant report

Variant	rs12519019
Chromosome Location	chr5:108586561-108586562
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11743213	0.83[AFR][1000 genomes]
rs12515645	0.83[AMR][1000 genomes]
rs12517248	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1592806	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs17473831	0.83[AFR][1000 genomes]
rs57331834	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027163	chr5:108445447-108839913	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv599338	chr5:108528729-108675737	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv4955	chr5:108577946-108611852	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12519019	GIMAP7	trans	cerebellum	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108585200-108589600	Weak transcription	Fetal Muscle Leg	muscle
2	chr5:108586000-108606000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:108586200-108586600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:108586400-108586600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
5	chr5:108586400-108586800	Enhancers	Placenta	Placenta

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