Variant report

Variant	rs9633947
Chromosome Location	chr11:119644360-119644361
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10892449	0.82[EUR][1000 genomes]
rs10892455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11217470	0.82[EUR][1000 genomes]
rs11217472	0.82[EUR][1000 genomes]
rs11217490	1.00[EUR][1000 genomes]
rs11217493	0.98[ASN][1000 genomes]
rs11217498	0.93[ASN][1000 genomes]
rs11600311	1.00[EUR][1000 genomes]
rs11601799	0.85[EUR][1000 genomes]
rs11607146	0.80[EUR][1000 genomes]
rs12270015	0.87[ASN][1000 genomes]
rs12270134	0.83[ASN][1000 genomes]
rs12271887	0.86[ASN][1000 genomes]
rs12576164	0.88[ASN][1000 genomes]
rs12576711	0.88[ASN][1000 genomes]
rs7130866	0.99[EUR][1000 genomes]
rs7936254	0.88[ASN][1000 genomes]
rs7940298	0.82[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	nsv898423	chr11:119541332-119659753	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9633947	UCHL1	trans	lymphoblastoid	seeQTL

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119635400-119647000	Weak transcription	Right Ventricle	heart
2	chr11:119641400-119649200	Weak transcription	GM12878-XiMat	blood
3	chr11:119641400-119652600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:119641600-119645000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:119641800-119644800	Enhancers	Fetal Brain Female	brain
6	chr11:119642800-119645000	Enhancers	Brain Hippocampus Middle	brain
7	chr11:119642800-119645800	Enhancers	Brain Germinal Matrix	brain
8	chr11:119643000-119644400	Enhancers	Brain Angular Gyrus	brain
9	chr11:119643000-119644400	Enhancers	Brain Cingulate Gyrus	brain
10	chr11:119643000-119644600	Enhancers	Brain Anterior Caudate	brain
11	chr11:119643000-119644600	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr11:119643000-119644800	Enhancers	Brain Substantia Nigra	brain
13	chr11:119643200-119644400	Enhancers	Brain Dorsolateral Prefrontal Cortex	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