Variant report

Variant	rs2056962
Chromosome Location	chr22:28672406-28672407
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10483146	0.87[AFR][1000 genomes]
rs17412920	1.00[ASW][hapmap]
rs17502181	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2223369	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[MEX][hapmap];0.94[TSI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2346395	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.82[CHD][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap]
rs7288416	1.00[ASW][hapmap]
rs73168125	0.87[AFR][1000 genomes]
rs73168143	0.87[AFR][1000 genomes]
rs738996	1.00[ASW][hapmap];0.91[MEX][hapmap];0.87[AFR][1000 genomes]
rs9306454	1.00[ASW][hapmap]
rs9608668	0.82[EUR][1000 genomes]
rs9608677	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.93[JPT][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];0.93[EUR][1000 genomes]
rs9613574	1.00[CEU][hapmap]
rs9613580	1.00[CEU][hapmap];0.92[CHB][hapmap];0.87[JPT][hapmap];0.89[AFR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9613581	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9613588	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9613630	1.00[ASW][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	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv459866	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv588879	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2056962	ZNF251	trans	parietal	SCAN
rs2056962	TTC28	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28651800-28690600	Weak transcription	Dnd41	blood
2	chr22:28657000-28691600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr22:28664400-28674800	Weak transcription	NHDF-Ad	bronchial
4	chr22:28665600-28677600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr22:28666200-28691000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr22:28671000-28672600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr22:28671000-28672800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr22:28671000-28672800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr22:28671000-28674200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr22:28671200-28672600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr22:28671200-28672800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr22:28672000-28673400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr22:28672000-28681000	Weak transcription	Fetal Lung	lung
14	chr22:28672200-28678400	Weak transcription	Fetal Stomach	stomach
15	chr22:28672400-28679800	Weak transcription	Psoas Muscle	Psoas

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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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