Variant report

Variant	rs1462031
Chromosome Location	chr13:51461720-51461721
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1116800	0.80[ASN][1000 genomes]
rs6561597	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6561598	0.89[LWK][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs9526701	0.81[CHB][hapmap];0.91[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
2	nsv900077	chr13:51446114-51514831	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv900078	chr13:51454896-51478716	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv983515	chr13:51456419-51463427	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1462031	RNASEH2B	cis	parietal	SCAN
rs1462031	CPB2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51457200-51464600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr13:51458800-51463400	Weak transcription	Fetal Thymus	thymus
3	chr13:51461000-51461800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr13:51461000-51462000	Enhancers	Primary hematopoietic stem cells	blood
5	chr13:51461000-51462000	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr13:51461000-51462200	Enhancers	Primary B cells from cord blood	blood
7	chr13:51461000-51462600	Weak transcription	Dnd41	blood
8	chr13:51461200-51462000	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr13:51461200-51462000	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr13:51461200-51462000	Enhancers	Primary B cells from peripheral blood	blood
11	chr13:51461200-51465200	Weak transcription	Aorta	Aorta
12	chr13:51461200-51465400	Enhancers	GM12878-XiMat	blood
13	chr13:51461600-51464200	Weak transcription	Primary hematopoietic stem cells short term culture	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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