Variant report

Variant	rs2779514
Chromosome Location	chr13:30579333-30579334
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12427487	0.80[ASN][1000 genomes]
rs12428518	0.80[ASN][1000 genomes]
rs12428529	0.80[ASN][1000 genomes]
rs4363718	0.87[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4569104	0.93[ASN][1000 genomes]
rs4769799	0.94[ASN][1000 genomes]
rs73161513	0.80[ASN][1000 genomes]
rs7325348	0.95[ASN][1000 genomes]
rs7994485	0.94[ASW][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs846837	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs846838	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs846841	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs846842	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs846844	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9506250	0.85[AFR][1000 genomes];0.93[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	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2779514	FLT3	cis	cerebellum	SCAN
rs2779514	CDK8	cis	cerebellum	SCAN
rs2779514	N4BP2L2	cis	cerebellum	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30569200-30580000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr13:30574400-30579400	Weak transcription	Spleen	Spleen
3	chr13:30577000-30580600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr13:30577800-30579600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr13:30577800-30579800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr13:30577800-30579800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr13:30577800-30579800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr13:30577800-30579800	Enhancers	NHDF-Ad	bronchial
9	chr13:30577800-30581200	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr13:30578000-30581000	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr13:30578600-30580600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr13:30578800-30580400	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr13:30578800-30580600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr13:30578800-30583000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr13:30578800-30588200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr13:30579000-30579600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr13:30579000-30580200	Weak transcription	Primary T cells from cord blood	blood
18	chr13:30579200-30580000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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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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