Variant report

Variant	rs692309
Chromosome Location	chr15:49998682-49998683
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10851478	0.89[CEU][hapmap];0.83[CHB][hapmap];0.90[JPT][hapmap]
rs1484553	1.00[CEU][hapmap];0.83[CHB][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1507618	0.90[EUR][1000 genomes]
rs1588132	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs7176306	0.83[CHB][hapmap];0.90[JPT][hapmap]

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	nsv1044277	chr15:49921547-50702386	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542380	chr15:49921547-50702386	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv569393	chr15:49977687-50012256	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs692309	SPATA5L1	cis	parietal	SCAN
rs692309	COPS2	Cis_1M	lymphoblastoid	RTeQTL
rs692309	FAM227B	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49996200-50001600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr15:49998400-49999600	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr15:49998400-49999600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr15:49998400-49999600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr15:49998400-49999800	Enhancers	Primary hematopoietic stem cells	blood
6	chr15:49998400-50000000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr15:49998400-50001000	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr15:49998600-50001200	Enhancers	Primary monocytes fromperipheralblood	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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