Variant report

Variant	rs34500256
Chromosome Location	chr19:51775937-51775938
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10410689	0.91[ASN][1000 genomes]
rs10410697	0.91[ASN][1000 genomes]
rs12459426	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12459452	0.94[ASN][1000 genomes]
rs12463197	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16982604	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17801945	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2455070	0.87[EUR][1000 genomes]
rs8103896	0.87[EUR][1000 genomes]
rs8107576	0.87[EUR][1000 genomes]

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	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
3	esv3340459	chr19:51775690-51777763	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51770400-51777400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr19:51773800-51776400	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr19:51774000-51776000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr19:51774200-51776400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr19:51774600-51785200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr19:51775200-51776000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr19:51775200-51776400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr19:51775200-51776400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr19:51775400-51776200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr19:51775600-51776000	Enhancers	K562	blood
11	chr19:51775600-51776400	Enhancers	A549	lung
12	chr19:51775800-51776000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
13	chr19:51775800-51776000	Enhancers	Right Atrium	heart

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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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