Variant report

Variant	rs1037254
Chromosome Location	chr13:39320761-39320762
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2197887	0.92[ASN][1000 genomes]
rs2442359	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2496446	0.80[EUR][1000 genomes]
rs2496448	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2496449	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2496451	0.80[EUR][1000 genomes]
rs9532273	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9548443	0.81[ASN][1000 genomes]
rs9548444	0.85[EUR][1000 genomes];0.81[ASN][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	nsv832585	chr13:39233307-39424375	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs1037254	FREM2	cis	cerebellum	SCAN
rs1037254	FREM2	cis	parietal	SCAN
rs1037254	UFM1	cis	cerebellum	SCAN
rs1037254	FREM2	cis	brain	BrainEAC
rs1037254	FREM2	cis	putamen	BrainEAC

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39294800-39325000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr13:39298200-39339600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr13:39310800-39325400	Weak transcription	Fetal Kidney	kidney
4	chr13:39318000-39325000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr13:39320000-39325400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr13:39320600-39321800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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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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