Variant report

Variant	rs5997665
Chromosome Location	chr22:30888412-30888413
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:7)

rs_ID	r²[population]
rs11703735	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11705494	1.00[CHB][hapmap]
rs41282475	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs41282477	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4820015	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5997660	0.84[EUR][1000 genomes]
rs933339	0.96[AMR][1000 genomes];0.91[EUR][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	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	esv3413089	chr22:30888110-30921604	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30874600-30894000	Weak transcription	Right Atrium	heart
2	chr22:30881800-30890000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr22:30882000-30889400	Weak transcription	Spleen	Spleen
4	chr22:30883400-30901200	Weak transcription	A549	lung
5	chr22:30884800-30891200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr22:30886400-30893600	Weak transcription	Lung	lung
7	chr22:30886600-30892000	Strong transcription	Liver	Liver
8	chr22:30888400-30888600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr22:30888400-30888600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin

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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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