Variant report

Variant	rs60846306
Chromosome Location	chr22:29592923-29592924
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs57917359	0.80[AFR][1000 genomes]
rs59622409	0.90[AFR][1000 genomes]
rs73882491	0.92[AFR][1000 genomes]
rs73882494	0.97[AFR][1000 genomes]
rs73882497	0.97[AFR][1000 genomes]
rs73882498	0.97[AFR][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	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv524483	chr22:29525126-29630337	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	esv3418371	chr22:29569447-29595319	Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv914958	chr22:29586058-29620599	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29581600-29598400	Weak transcription	Fetal Brain Female	brain
2	chr22:29588000-29598200	Weak transcription	Fetal Brain Male	brain
3	chr22:29589600-29597800	Weak transcription	Fetal Intestine Large	intestine
4	chr22:29590600-29593200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr22:29591600-29595800	Weak transcription	Fetal Intestine Small	intestine
6	chr22:29592000-29597800	Weak transcription	Fetal Lung	lung
7	chr22:29592200-29593600	Enhancers	K562	blood
8	chr22:29592200-29595600	Weak transcription	Dnd41	blood
9	chr22:29592200-29596400	Weak transcription	Spleen	Spleen
10	chr22:29592200-29597000	Weak transcription	Fetal Thymus	thymus
11	chr22:29592200-29598000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr22:29592400-29597000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr22:29592400-29598000	Weak transcription	Left Ventricle	heart
14	chr22:29592400-29598200	Weak transcription	Lung	lung
15	chr22:29592600-29595600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr22:29592600-29597600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr22:29592800-29593200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr22:29592800-29595600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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