Variant report

Variant	rs357684
Chromosome Location	chr13:49514678-49514679
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12876671	0.99[EUR][1000 genomes]
rs17072558	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs17072590	0.80[ASN][1000 genomes]
rs17464210	0.98[EUR][1000 genomes]
rs1964160	0.94[EUR][1000 genomes]
rs33945289	0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34494225	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs357679	0.94[EUR][1000 genomes]
rs6561486	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6561489	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7330857	0.98[EUR][1000 genomes]
rs7338291	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7985609	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3335750	chr13:49514534-49514918	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs357684	CAB39L	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49512000-49515600	Enhancers	Fetal Intestine Small	intestine
2	chr13:49513000-49521400	Weak transcription	Stomach Mucosa	stomach
3	chr13:49513200-49515200	Weak transcription	K562	blood
4	chr13:49513800-49514800	Enhancers	Placenta	Placenta
5	chr13:49514000-49516400	Weak transcription	Fetal Intestine Large	intestine
6	chr13:49514600-49515400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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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

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