Variant report

Variant	rs9613588
Chromosome Location	chr22:28666398-28666399
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10483146	0.87[AFR][1000 genomes]
rs17502181	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2056962	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]
rs2223369	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2346395	1.00[CEU][hapmap];0.92[CHB][hapmap];0.85[JPT][hapmap]
rs5752710	0.82[CEU][hapmap]
rs73168125	0.87[AFR][1000 genomes]
rs73168143	0.87[AFR][1000 genomes]
rs738996	0.87[AFR][1000 genomes]
rs9608668	0.82[EUR][1000 genomes]
rs9608677	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9613574	1.00[CEU][hapmap]
rs9613580	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.89[AFR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9613581	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][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	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

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28651800-28690600	Weak transcription	Dnd41	blood
2	chr22:28653000-28671600	Weak transcription	Fetal Stomach	stomach
3	chr22:28657000-28691600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr22:28659400-28671200	Weak transcription	Fetal Lung	lung
5	chr22:28662800-28671200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr22:28662800-28671200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr22:28663000-28671000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr22:28664400-28666400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr22:28664400-28671800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr22:28664400-28674800	Weak transcription	NHDF-Ad	bronchial
11	chr22:28665200-28671000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr22:28665600-28677600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr22:28665800-28666400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr22:28666200-28691000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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

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