Variant report

Variant	rs17519307
Chromosome Location	chr12:40589372-40589373
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17489365	0.90[AFR][1000 genomes]
rs17519797	1.00[YRI][hapmap]
rs17520851	1.00[YRI][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	nsv558596	chr12:40413698-40591117	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1045516	chr12:40543200-40589557	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
3	nsv1044685	chr12:40574460-40771612	Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40586000-40591000	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr12:40586200-40591600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr12:40587200-40589400	Weak transcription	HUVEC	blood vessel
4	chr12:40587200-40590400	Enhancers	Primary B cells from peripheral blood	blood
5	chr12:40588000-40590400	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr12:40588200-40589400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr12:40588200-40589400	Weak transcription	Primary B cells from cord blood	blood
8	chr12:40588200-40589400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:40588400-40589600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr12:40588600-40590400	Enhancers	Primary hematopoietic stem cells	blood
11	chr12:40588800-40589800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr12:40589200-40589800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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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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