Variant report

Variant	rs17464499
Chromosome Location	chr22:27891715-27891716
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs5752563	0.84[ASN][1000 genomes]
rs5762196	0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs5762202	1.00[ASN][1000 genomes]
rs5762204	0.87[ASN][1000 genomes]
rs5762206	1.00[ASN][1000 genomes]
rs926838	0.86[ASN][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	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	nsv834167	chr22:27758395-27910985	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv834168	chr22:27859692-28061869	Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27880000-27895200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr22:27885000-27902800	Weak transcription	Aorta	Aorta
3	chr22:27888000-27891800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr22:27888600-27892400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr22:27889200-27893000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr22:27889600-27892200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr22:27889800-27892000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr22:27890400-27891800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr22:27890400-27891800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr22:27891200-27891800	Enhancers	Fetal Muscle Leg	muscle
11	chr22:27891600-27894400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr22:27891600-27895000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr22:27891600-27895400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr22:27891600-27896600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr22:27891600-27897400	Weak transcription	Psoas Muscle	Psoas

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

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