Variant report

Variant	rs4944475
Chromosome Location	chr11:83985411-83985412
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1454024	1.00[CEU][hapmap]
rs1515089	0.92[JPT][hapmap];0.85[ASN][1000 genomes]
rs4944478	0.87[CHB][hapmap]
rs963258	1.00[CEU][hapmap]

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	nsv1039924	chr11:83662904-83993497	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv541102	chr11:83662904-83993497	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv948410	chr11:83918339-84812001	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs4944475	NACA2	trans	brain	seeQTL
rs4944475	USH1G	trans	brain	seeQTL
rs4944475	OLIG3	trans	brain	seeQTL
rs4944475	IDO2	trans	brain	seeQTL
rs4944475	SIPA1L3	trans	brain	seeQTL
rs4944475	RNF11	trans	brain	seeQTL
rs4944475	NIPSNAP3A	trans	brain	seeQTL
rs4944475	ELMOD3	trans	brain	seeQTL
rs4944475	MLLT1	trans	brain	seeQTL
rs4944475	CCDC82	trans	brain	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:83985000-83985800	Enhancers	Brain Hippocampus Middle	brain
2	chr11:83985000-83986000	Enhancers	Brain Anterior Caudate	brain
3	chr11:83985000-83986000	Enhancers	Brain Substantia Nigra	brain
4	chr11:83985200-83985600	Flanking Active TSS	Brain Cingulate Gyrus	brain
5	chr11:83985200-83985600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
6	chr11:83985400-83985600	Enhancers	Brain Inferior Temporal Lobe	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