Variant report

Variant	rs543123
Chromosome Location	chr22:27715293-27715294
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs471702	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs475317	0.92[EUR][1000 genomes]
rs483261	0.84[AFR][1000 genomes]
rs496200	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs520217	0.95[AFR][1000 genomes]
rs520634	0.92[YRI][hapmap];0.95[AFR][1000 genomes]
rs521076	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs531862	1.00[JPT][hapmap]
rs536730	1.00[JPT][hapmap]
rs541267	0.94[AFR][1000 genomes]
rs573488	0.95[AFR][1000 genomes]
rs574429	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs577795	0.85[AFR][1000 genomes]
rs8136240	1.00[JPT][hapmap];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3413125	chr22:27404463-28121577	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv459860	chr22:27527005-28181436	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv588872	chr22:27527005-28181436	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv834166	chr22:27628570-27814359	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs543123	AHSP	trans	lymphoblastoid	seeQTL

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27706800-27715400	Enhancers	Fetal Intestine Large	intestine
2	chr22:27707200-27715400	Enhancers	Fetal Intestine Small	intestine
3	chr22:27709000-27715600	Enhancers	Fetal Brain Male	brain
4	chr22:27713000-27715400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr22:27713400-27715400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr22:27713800-27715600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr22:27714400-27719000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr22:27714800-27715400	Enhancers	Brain Germinal Matrix	brain
9	chr22:27714800-27715600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr22:27715000-27719600	Weak transcription	Ovary	ovary
11	chr22:27715200-27727400	Weak transcription	H9 Cell Line	embryonic stem cell

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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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