Variant report

Variant	rs11053599
Chromosome Location	chr12:10272337-10272338
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10505753	1.00[LWK][hapmap];1.00[MKK][hapmap]
rs11053600	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7314021	0.85[GIH][hapmap];0.83[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	nsv898757	chr12:10229281-10614641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11053599	RIMKLB	cis	parietal	SCAN
rs11053599	BCL2L14	cis	parietal	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10264200-10275600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:10264600-10281000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr12:10268800-10278800	Weak transcription	Spleen	Spleen
4	chr12:10270800-10273200	Genic enhancers	Primary monocytes fromperipheralblood	blood
5	chr12:10271600-10272600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:10271600-10273000	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
7	chr12:10271600-10273400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
8	chr12:10272000-10273800	Weak transcription	Primary hematopoietic stem cells	blood

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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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