Variant report

Variant	rs130452
Chromosome Location	chr22:32922125-32922126
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Variant related genes	Relation type
ENSG00000100234	Chromatin interaction
ENSG00000183531	Chromatin interaction
ENSG00000229673	Chromatin interaction
ENSG00000197047	Chromatin interaction
ENSG00000185666	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs130451	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs130456	0.81[EUR][1000 genomes]
rs135123	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2710380	0.82[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	nsv914981	chr22:32912277-32940660	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32898600-32928000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr22:32898800-32927200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr22:32904000-32924400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr22:32910200-32925600	Weak transcription	Spleen	Spleen
5	chr22:32914200-32924000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr22:32914200-32928000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr22:32914400-32928200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr22:32914400-32932000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr22:32916000-32927600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr22:32918800-32923800	Weak transcription	Brain Angular Gyrus	brain
11	chr22:32919200-32923600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr22:32920200-32928000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr22:32920400-32924200	Weak transcription	Brain Inferior Temporal Lobe	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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