Variant report

Variant	rs219513
Chromosome Location	chr2:21586117-21586118
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10865318	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1106843	0.97[ASN][1000 genomes]
rs12713441	0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13410732	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs219523	0.80[EUR][1000 genomes]
rs635141	0.83[EUR][1000 genomes]
rs6730605	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011486	chr2:21475803-22364002	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv535602	chr2:21475803-22364002	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv455863	chr2:21547003-21615340	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv581170	chr2:21547003-21615340	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs219513	FKBP1B	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21582000-21634600	Weak transcription	Aorta	Aorta
2	chr2:21585200-21586600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:21585400-21589800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:21585400-21589800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:21585400-21590600	Weak transcription	Fetal Lung	lung
6	chr2:21585800-21589800	Weak transcription	HMEC	breast
7	chr2:21585800-21589800	Weak transcription	NHEK	skin
8	chr2:21586000-21587000	Enhancers	Placenta Amnion	Placenta Amnion

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