Variant report

Variant	rs2705766
Chromosome Location	chr2:47890331-47890332
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1400633	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1882450	0.80[ASN][1000 genomes]
rs2705767	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2944783	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2969772	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2969774	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2969775	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6745013	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998314	chr2:47720420-47959168	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv817599	chr2:47738456-47961099	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv457396	chr2:47866133-47956844	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv581771	chr2:47866133-47956844	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv581772	chr2:47874713-47892526	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2705766	PLEKHH2	cis	parietal	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47883200-47893000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:47883600-47891200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:47888800-47891200	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr2:47888800-47892000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:47888800-47892400	Enhancers	H1 Cell Line	embryonic stem cell
6	chr2:47889200-47891200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:47889400-47891400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:47889600-47890400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr2:47889600-47891000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:47889800-47892400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr2:47889800-47893400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr2:47890000-47890400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr2:47890000-47890400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr2:47890200-47891200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr2:47890200-47891400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr2:47890200-47891400	Enhancers	HUES6 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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