Variant report

Variant	rs11883469
Chromosome Location	chr2:114133824-114133825
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10496450	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11679036	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11686610	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4534237	0.90[EUR][1000 genomes]

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	esv2757826	chr2:114074949-114253780	Enhancers Strong transcription Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv2759085	chr2:114074949-114428678	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1002255	chr2:114120037-114236620	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11883469	RABL2A	cis	Thyroid	GTEx

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114128400-114134200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:114128800-114147400	Weak transcription	A549	lung
3	chr2:114131000-114134000	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr2:114131000-114135600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr2:114131200-114135000	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr2:114131200-114135000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:114133000-114134200	Weak transcription	Primary B cells from peripheral blood	blood
8	chr2:114133200-114134600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr2:114133800-114134600	Enhancers	GM12878-XiMat	blood
10	chr2:114133800-114135000	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr2:114133800-114135400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:114133800-114135600	Enhancers	Primary B cells from cord blood	blood

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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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