Variant report

Variant	rs2134073
Chromosome Location	chr19:51714440-51714441
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11878816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12971624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2173879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2173880	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3987765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][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	nsv1066308	chr19:51680133-52103974	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv544049	chr19:51680133-52103974	Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51704800-51715000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:51713400-51715400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr19:51713400-51715800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr19:51713600-51715600	Enhancers	Primary hematopoietic stem cells	blood
5	chr19:51713800-51714600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr19:51713800-51714800	Enhancers	Primary B cells from cord blood	blood
7	chr19:51714000-51715000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr19:51714000-51715400	Enhancers	Spleen	Spleen
9	chr19:51714200-51714600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr19:51714200-51715200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
11	chr19:51714200-51715200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr19:51714200-51715200	Active TSS	Hela-S3	cervix
13	chr19:51714400-51714800	Active TSS	Brain Hippocampus Middle	brain
14	chr19:51714400-51715200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
15	chr19:51714400-51715200	Enhancers	Lung	lung

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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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